The Clinical phenotypes and Follow-up of 51 Chinese patients with 22q11.2 Deletion Syndrome

The Clinical phenotypes and Follow-up of 51 Chinese patients with 22q11.2 Deletion Syndrome | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Research Article The Clinical phenotypes and Follow-up of 51 Chinese patients with 22q11.2 Deletion Syndrome Wei Dong, Haili Yao, Wenjie Wang, Jinqiao Sun, Qinhua Zhou, Jia Hou, and 3 more This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-9443851/v1 This work is licensed under a CC BY 4.0 License Status: Under Review Version 1 posted 6 You are reading this latest preprint version Abstract Objectives 22q11.2 Deletion Syndrome (22q11.2 DS) is an immunodeficiency disorder characterized by a abroad spectrum of clinical phenotypes, including facial dysmorphism, congenital heart and palate malformations, immune deficiencies, endocrine abnormalities, hypocalcemia as well as neurodevelopmental disorders. We aim to describe the clinical phenotypes and follow-up of a Chinese pediatric cohort with 22q11.2 DS. Methods A retrospective study was conducted on patients diagnosed with 22q11.2 DS from August 2008 to October 2025. The clinical, immunological, neurological and follow-up data were collected from electronic medical records. Diagnosis was confirmed using fluorescence in situ hybridization (FISH), multilink probe amplification technique (MLPA), array comparative genomic hybridization (aCGH) or whole-exome sequencing (WES). Results The general clinical manifestations of 51 patients included:(1) Facial dysmorphism (31.4%, 16/51); Palatopharyngeal malformations (21.6%, 11/51) ; Congenital heart disease (76.5%, 39/51); Endocrine abnormalities (45.1%, 23/51). (2) Immune characteristics: The incidence of recurrent infections was 31.4% (16/51); Immunomodulatory therapy (thymopentin or IVIG) was administered to 39.2% (20/51) of patients. T-cell deficiency (30/51), associated with thymic hypoplasia or aplasia (23.5%, 12/51). (3) Central nervous system characteristics: Neurological abnormalities (58.8%, 30/51), cognitive and developmental delay, epilepsy, and hypocalcemic seizures were the most common. Intelligence testing (25.5%, 13/51) revealed subnormal scores in all cases. Neuroimaging (89.7%, 35/39) commonly showed subdural hemorrhage and cerebral dysgenesis. (4) Follow-up data: As for 45 patients, T-cell immunodeficiency was in 26.7% (12/45) and ongoing immunomodulatory therapy was in 15.6% (7/45). The rate of neurodevelopmental abnormalities increased to 71.1% (32/45), learning difficulties being most common. Conclusion We found congenital heart disease combined with facial deformity should be vigilantly of 22q11.2 DS and carried out genetic testing. Systematic follow-up and monitoring of immune function and neurodevelopmental abnormalities are beneficial for improving the prognosis of the children. 22q11.2 deletion syndrome Clinical phenotypes Immunology manifestations Neurological manifestations Follow-up Figures Figure 1 Figure 2 Introduction 22q11.2 deletion syndrome(22q11DS), also referred to as DiGeorge or velocardiofacial syndrome, is a microdeletion disorder with an estimated incidence of 1 in 2000–4000 live births [ 1 ] . The deletion typically involves approximately 50 protein-coding genes within the q11.2 region of chromosome 22, leading to highly variable phenotypic expression, including facial dysmorphism, congenital cardiac and palatal malformations, immune deficiencies, endocrine dysfunction, hypocalcemia, and neurodevelopmental impairments [ 2 ] . Additional associated features encompass renal anomalies, hearing loss, growth retardation, psychiatric disorders, and feeding difficulties [ 3 ] . Comprehensive management of pediatric patients with 22q11.2 DS is crucial for early identification, assessment, monitoring, and treatment of associated conditions to enhance survival and quality of life into adulthood. 22q11.2 DS can be categorized into several subtypes: 22q11.2 deletion without T-cell lymphopenia, with mild or significant T-cell lymphopenia, with congenital athymia, and with congenital athymia and autoimmune dysregulation (Omenn-like syndrome) [ 4 ] . Studies indicate that 75–80% of patients exhibit immune system abnormalities, including increased susceptibility to infections, autoimmune diseases and atopic reactions [ 5 ] . T-cell counts, which correlate with thymic size in early childhood, are often reduced. The gene deletion effects on secondary lymphoid organs or cell-intrinsic effects on lymphocytes could play a role in clinical immune concerns during adulthood in 22qDS [ 6 ] . Neurological manifestations frequently include learning disabilities, autism spectrum disorder (ASD), cognitive deficits and speech delays, visuospatial and arithmetic impairments, attention deficit hyperactivity disorder (ADHD), and coordination deficits. Approximately 30% of patients develop schizophrenia, representing a 12- to 80-fold increased risk compared to the general population [ 7 ] . These features are strongly associated with long-term prognosis and adult outcomes. Until now, The largest cohort in China was studying fetal phenotypic and genotypic characteristics of 64 22qDS fetus [ 8 ] . However, Zhao Yingjie etal. evaluated IQ scores in 1,478 subjects with 22q11.2DS and results indicate that haploinsufficiency of genes in the LCR22B-D region (BD) exert an additional negative impact on IQ [ 9 ] . But they all don’t systematic description of clinical phenotypes and immunodeficiency characteristics. Ella Nissan,etal reported general information, laboratory results, and clinical features with 98 patients of DiGeorge syndrome [ 10 ] . So, there is a scarcity of systematic analyses focusing on the phenotypic spectrum of 22q11.2 DS in Chinese pediatric populations. Therefore, we conducted a retrospective review of clinical, immunological, and neurological manifestations among patients diagnosed at our institution. This study aims to enhance the understanding of 22q11.2 DS and improve clinical management and quality of life for affected children in China. Methods Patients We retrospectively collected data from 51 pediatric patients with a confirmed genetic diagnosis of 22q11.2 deletion syndrome treated in the Department of Pediatric Immunology at Fudan University in the period from August 2008 to October 2024. Data included genetic, clinical, immunological, neurological and imaging findings retrieved from electronic medical records. A subset of patients underwent intellectual assessment. Written informed consent was obtained from the parents of all participating patients, and the study was approved by the Ethics Committee of the Children’s Hospital of Fudan University. Genetic diagnostic methods Diagnosis was confirmed using FISH with a dual-color DNA probe (Vysis LSI TUPLE1, Abbott), MLPA (SALSA MLPA P250 kit, MRC Holland), aCGH (Agilent Custom Human Genome CGH Microarray 4×180K), or WES. For WES, genomic DNA was extracted from patient and parental blood samples. Genomic DNA fragments were enriched for the target region of the consensus coding sequence exons and subsequently sequenced on the HiSeq 2000 sequencer(Illumina, San Diego, CA). The raw data were mapped to the human genome reference sequence (hg19). Nucleotide changes observed in more than 5% of the aligned reads were called and reviewed with NextGENe software (SoftGenetics, State College, PA). Serum immunoglobulin and lymphocyte subset detection As previously reported [11] , serum IgG, IgA and IgM were determined by an automated clinical chemistry analyzer (Erba Diagnostics, Mannheim, Germany). IgE was assessed with UniCAP (Pharmacia, Uppsala, Sweden). Flow cytometry was performed according to our previously published protocol [12] . Lymphocyte subsets were analyzed by flow cytometry (FACSCalibur, BD Biosciences) using BD Multitest IMK kits and additional markers for T-cell and B-cell subpopulations. T cell subsets were defined by antihuman CD3 (PerCP-Cy5.5), anti-CD8(BV510),anti-CD4,(FITC; fluorescein isothiocyanate), anti-CD27 (APC;allophycocyanin), anti-CD45RA (PE-Cy7), anti-TCRαβ(PE; phycoerythrin) and anti-TCRγδ (BV421). The following B cell subsets were detected: anti-CD19 (APC),anti-human CD24 (PE), anti-CD27 (BV450), anti-CD38(PerCP-Cy5.5) and anti-IgD (BV510) (BD Biosciences). Diagnosis of Neurological abnormalities Neurological abnormalities were evaluated based on clinical manifestations, intelligence assessment, brain magnetic resonance imaging (MRI), brain computed tomography plain scan (CT) and electroencephalogram (EEG). Diagnostic criteria referred to " Nelson Textbook of Pediatrics [13] ". Classification mainly included cognitive and developmental delay, epilepsy, ataxia, and microcephaly, etc. Intelligence assessment was performed according to age-appropriate standards. Thymus size was assessed via chest imaging (chest X rays and CT). Brain MRI and CT abnormalities were interpreted with reference to "CAFFEY’S Pediatric Diagnostic Imaging [14] ", including brain dysplasia (widened subarachnoid space, widened sulci and fissures, enlarged ventricles), brain atrophy (reduced brain volume, widened sulci and fissures), cerebellar dysplasia (reduced cerebellar volume, widened cerebellar sulci)，corpus callosum dysplasia (partial absence) and intracerebral injury foci (cortical signal abnormalities, white matter reduction). Statistical Analysis Normally distributed measurement data are expressed as mean ± standard deviation, while non-normally distributed data are expressed as median and the interquartile range (Q1-Q3). Categorical data are expressed as frequency and percentage. Descriptive analysis was conducted on clinical phenotype data. Results 1. Demographic Features Fifty-one patients were diagnosed with 22q11.2 DS, with a female-to-male ratio of 21:30 and a median age at diagnosis of 4 months (range: 0–99 months). All patients were from nonconsanguineous families. General clinical features are detailed in Table 1. 2. Clinical manifestations 2.1 Facial dysmorphism Facial dysmorphism occurred in 31.4% (16/51) of patients. Three cases exhibited a small mouth and nose with asymmetric crying facies; four had micrognathia; one had microcephaly. Other features included a spherical nasal tip, ocular hypertelorism, fish-like lips, narrow palpebral fissures, low-set ears, and a high palatal arch. 2.2 Palatopharyngeal malformations Eleven patients (21.6%) exhibited palatopharyngeal malformations, including throat puffing (2 patients), congenital laryngeal stridor (2 patients), congenital laryngeal chondrodysplasia (5 patients), and cleft palate (2 patients). 2.3 Congenital heart disease Congenital heart disease was identified in 39 patients (76.5%). Specific defects included patent ductus arteriosus (12 patients), ventricular septal defect (15 patients), atrial septal defect (16 patients), tetralogy of Fallot (7 patients), patent foramen ovale (14 patients), pulmonary stenosis (3 patients), and anomalous pulmonary venous drainage (2 patients). Cardiac surgery was performed in 22 patients, and two patients died after surgery. 2.4 Endocrine abnormalities Endocrine abnormalities were documented in 23 patients (45.1%), including hypocalcemia (13 patients), hypoparathyroidism (10 patients), hypothyroidism (5 patients), and dwarfism (2 patients). 2.5 Infection manifestations All patients experienced infections of varying severity or immoderate inflammation reaction (Figure 1). The most common manifestation included recurrent respiratory infections (9 patients, 17.6%), recurrent pneumonia (7 patients, 13.7%) and septicemia (4 patients, 7.8%). Less common infections involved maxillofacial infection, enteritis, and otitis media. Immoderate inflammation included Kawasaki disease, hemophagocytic syndrome. One patient P11 died of severe pneumonia and respiratory failure. Infectious pathogens were detected in 43.1% (22/51) patients (Figure 2). Bacterial infection included Streptococcus viridans(5 patients) and Pseudomonas aeruginosa (6 patients), Staphylococcus aureus (5 patients), Escherichia coli (2 patients), Neisseria species(5 patients), and MRSA (1 patient). Viral pathogens included rhinovirus (2 patients), CMV (1 patient), and respiratory syncytial virus (2 patients). mNGS identified CMV, EBV and circovirus infection in P26 patient; another patient P22 had Candida albicans, Staphylococcus aureus and EBV infection. 2.6 Neurological manifestations and neuroimaging results Neurological abnormalities (Table 2) were observed in 30 patients (58.8%), with a median onset age of 3 months and median diagnosis age of 6.16 months. Epilepsy (9 patients) and hypocalcemic seizures (8 patients) were the most common neurological diagnoses. Other manifestations included dystonia (2 patients), ataxia (1 patient), viral encephalitis (1 patient), learning difficulties (3 patients), hearing impairment (1 patient), stereotyped movements (1 patient), tic disorder (1 patient), language development delay (2 patients), and emotional abnormalities (1 patient). Neuroimaging was performed in 39 patients (76.5%), with abnormal findings in 35 (89.7%). Common observations included cerebral dysgenesis (7 patients), subdural bleeding (3 patients), scalp hematoma (1 patient), brain atrophy (1 patient), corpus callosum dysplasia (1 patient), intracerebral injury foci (1 patient), delayed myelination (1 patient), and cystic lesions (1 patient). Electroencephalogram abnormalities were identified in 10 patients (19.6%), including epileptiform discharges in 3 patients. Intelligence assessments, performed in 13 patients (25.5%), revealed subnormal scores in all cases. 2.7 Other system manifestations Additional manifestations involved multiple organ systems, including dermatological (dermatitis, 4 patients), abdominal (umbilical hernia, 4 patients; abdominal hernia, congenital diaphragmatic distension, each 2 patients), musculoskeletal (butterfly-shaped thoracic vertebrae, 2 patients; distal rib enlargement, scoliosis, left equinovarus, each 1 patient), genitourinary (cryptorchidism, hypospadias, left hydronephrosis, each 1 patient), and other anomalies (triphalangeal thumb, left blepharoptosis, congenital bronchial malformation, esophageal stenosis, pharyngeal cyst, bronchostenosis, each 1 patient). Also noted were hematological abnormalities (thrombocytopenia and idiopathic thrombocytopenic purpura, each 1 patient), hearing loss (1 patient), and enuresis (1 patient). Table 1 Demography and clinical general manifestations of 22q11.2 DS Patient Diagnosis age (month)/Sex Gene Microdeletion Facial Features Congenital Heart Defects Surgical methods Palatopharyngeal Malformations Endocrine Abnormalities Thymus volume Other phenotypes P1 0.2/M - small mouth and nose ,crooked mouth to the left when crying PDA,PFO - congenital laryngeal stridor hypocalcemia N left hydronephrosis, three sections of the thumb P2 19.9/M - N VSD ventricular septal defect repair surgery N N N - P3 0.5/M - N PDA - throat-puff N N - P4 1.9/M - N VSD,PFO ventricular septal defect repair surgery N N N - P5 5.4/M - N PA,VSD,ASD ventricular septal defect repair surgery+pulmonary valve stenosis dilation surgery N N N - P6 8.1/F - N PA,VSD,ASD cardiac catheterization N N N - P7 3.9/F - N ASD,VSD,PDA ventricular septal defect repair surgery N hypoparathyroidism N - P8 1.1/M - small jaw ASD,PFO - N hypoparathyroidism small - P9 4.3/M - N PFO - N N N dermatitis, distal rib enlargement P10 4/M - N PS,VSD ventricular septal defect repair surgery+pulmonary valve stenosis dilation surgery, died after surgery N hypocalcemia absence - P11 4.2/M - N PA,VSD Invasive ventilator treatment, died of respiratory failure N hypoparathyroidism N - P12 10/F - N TOF,PDA,PFO right heart catheterization + central left and right ventricles and aortic root angiography palatoschisis hypothyroidism small - P13 1.1/M - N PFO - N hypocalcemia，hypoparathyroidism，hypothyroidism small - P14 6.9/F - N TOF,ASD,PFO radical correction of tetralogy of fallot+foramen ovale closure + atrial septal repair + ductus arteriosus ligation N hypocalcemia N - P15 5.5/M - N TOF radical correction of tetralogy of fallot, dead after surgery N N N - P16 1.9/F - N VSD,ASD,PDA ventricular septal defect repair surgery+atrial septal repair + arteriocatheter ligation N N N - P17 3.5/M - N TOF,PDA,PFO radical correction of tetralogy of fallot, died of cardiac surgery N N N congenital diaphragmatic distension; butterfly-shaped thoracic vertebrae P18 2.6/M - N ASD,VSD,PDA ventricular septal defect repair + atrial septal repair + arteriocatheter ligation N N N left blepharoptosis P19 1.8/F - small jaw PDA,PFO - N N N - P20 2/F 2.56MB spherical nose tip，ocular hypertelorism ASD - congenital laryngeal chondrodysplasia hypocalcemia，hypoparathyroidism small umbilical hernia, P21 0.1/M - N PDA - N hypocalcemia small congenital bronchial malformation P22 12/F TBX1 small mouth and nose ,crooked mouth to the left when crying N - N N small dermatitis P23 0/F 3.2MB ocular hypertelorism, fish lip,small palpebral fissure VSD,ASD - throat-puff N small - P24 17/M 2.5 MB N N - N dwarfism N - P25 0.03/M 2.18MB N ASD - N N small esophageal stenosis P26 2/F TBX1 N ASD - congenital laryngeal chondrodysplasia hypothyroidism，hypocalcemia small umbilical hernia P27 0/M - small jaw, ocular hypertelorism, low-set ears N - congenital laryngeal chondrodysplasia N N bronchostenosis P28 3/M - N ASD,PFO resection of oropharyngeal lesions + laryngoplasty congenital laryngeal chondrodysplasia N N pharyngeal cyst, umbilical hernia,hearing loss P29 9/M - unusual facies VSD,APVD,PFO ventricular septal defect repair surgery congenital laryngeal chondrodysplasia N N - P30 36/M - N N - N hypoparathyroidism N - P31 36/F - low-set ears, fish lip, spherical nose tip N - N N N - P32 18/F 7.085MB microcephaly PFO - N N N - P33 23/F 2.5MB N N - N N N - P34 4/F 2.6MB N N - N N small umbilical hernia P35 0.07/M 2.5MB ocular hypertelorism, collapsed nose ASD,PDA - N hypothyroidism small cryptorchidism, hypospadias,umbilical hernia, oblique inguinal hernia P36 1/F 3.15MB small jaw, fish lip PFO - congenital laryngeal stridor hypocalcemia N dermatitis P37 0/M - N VSD ventricular septal defect repair surgery N hypocalcemia，hypoparathyroidism N dermatitis P38 56/F - ocular hypertelorism, low-set ears, high palatal arch PDA - N N N - P39 0.4/M - N N - N hypoparathyroidism，hypocalcemia N - P40 1.3/F - small mouth and nose ,crooked mouth to the left when crying N - palatoschisis hypothyroidism N abdominal hernia P41 4/F - N ASD - N hypocalcemia，hypoparathyroidism N thrombocytopenia P42 59/M - N N - N dwarfism N idiopathic thrombocytopenic purpura P43 3/M - fish lip, ocular hypertelorism, high palatal arch VSD,ASD,PDA tonsillectomy combined with adenectomy N hypoparathyroidism N left horseshoe foot P44 4/M - N TOF,PFO radical correction of tetralogy of fallot N N N congenital right diaphragmatic distension; P45 7/M - N TOF radical correction of tetralogy of fallot, cerebral palsy and quadriplegia after surgery N N N - P46 89/F - N N - N N N Enuresis P47 16/M - N ASD,APVD atrial septal patch repair + anomalous pulmonary vein drainage surgery N hypocalcemia, dwarfism N - P48 12/M - N TOF tetralogy of Fallot combined with outflow tract angioplasty + foramen ovale closure N N N - P49 99/M - N VSD ventricular septal defect repair surgery N N N butterfly-shaped thoracic vertebrae, scoliosis P50 21/M - high palatal arch N - N hypocalcemia N - P51 21/F - N VSD, ASD ventricular septal defect repair surgery N N N - Note:F-Female; M-Male; N-Normal; PDA-Patent Ductus Arteriosus; VSD-Ventricular Septal Defect; ASD-Atrial Septal Defect; TOF-Tetralogy of Fallot; PFO-Patent Foramen Ovale; PS-Pulmonary Stenosis; PA-Pulmonary Atresia; APVD-Anomalous Pulmonary Venous Drainage; ITP-idiopathic thrombocytopenic purpura; N-Normal; - Unavailable data Table 2 Neurological manifestations and neuroimaging results of 22q11.2DS Patient Neuro- onset Age (month) Diagnosis Age (month) Delayed Development Intellectual Disability Neurological Manifestation MRI/CT Electroencephalogram Intelligence Assessment P1 6 6.16 + + subdural bleeding, scalp hematoma Less gyri, occipital subdural bleeding, scalp hematoma normal - P2 0 6 + + epilepsy, dystonia - normal - P7 12 15 + + subdural bleeding CT: subdural bleeding normal - P8 4.4 4.4 + + epilepsy;subdural bleeding CT: subdural bleeding abnormal - P9 8 18 + + dystonia thin cerebral cortex, less white matter, thin corpus callosum, brain dysplasia normal - P11 unknown unknown + + low calcium convulsions normal basic electrical activity slower and the voltage is lower - P12 9 17 + + low calcium convulsions；epilepsy brain sulci widened; extracerebral space widened and full lateral ventricles sharp waves and sharp slow wave - P13 1.4 1.4 + + low calcium convulsions, epilepsy CT: bilateral temporal pole extracerebral space widened background electrical activity slow, front sharp wave; the voltage is lower - P20 18 18 + + viral encephalitis full ventricles and extracerebral Spaces widened physiological waves and lots of β waves - P21 0.1 10 + + low calcium convulsions, ataxia left cerebellar extracerebral space widened borderline infantile EEG, slightly slower background, bilateral OIRDA Gesell: gross movement 54, fine movement 44, adaptive behavior 46, language 49, Personal - social ‌ 54 P22 9 17 + + epilepsy bilateral basal ganglia and thalamus symmetrical signal shadow, brain dysplasia high amplitude sharp wave and sharp slow wave DST: gross movement 12/14, social adaptation 10/12, intelligence 8/19 P23 8 8 + + - cavum septum pellucidum widening normal DST:DQ84，MI92 P24 17 17 + + - normal 6-7Hz normal wave and some &waves DST:DQ＜50，MI＜50 P25 8 8 + + - normal normal ASQ：communication area is close to the threshold value, and the gross action area is lower than the threshold value P26 17 17 + + epilepsy plump brain ventricles - - P28 0 3 + + hearing impairment - - - P32 21 24 + + - - - DST: DQ53, MI58 P33 10 23 + + - - - - P35 0 3 + + monotonous whole body movement myelination lags behind full-term infants - - P38 12 15 + + epilepsy - - DST: DQ＜49, MI＜56 P39 10 15 + + low calcium convulsions - - DST: DQ＜48, MI＜50 P41 0.2 1.6 + + low calcium convulsions - - Gesell: gross movement 42, fine movement 63, adaptive behavior 52, language 52, personal - social ‌ 42 P42 6 139 + + low calcium convulsions - - - P43 7 7 + + learning difficulty - - Gesell: gross movement 63, fine movement 42, adaptive behavior 29, language 39, personal - social ‌ 49 P45 0.2 7 + + epilepsy - - - P46 84 89 + + learning difficulty - - Wechsler intelligence scale IQ59 P47 6 108 + + epilepsy, tic disorder bilateral lateral ventricle dilation a sharp slow-wave discharge stove in the Rolandic area on the left Gesell: gross movement 56, fine movement 56, adaptive behavior 64, language 56, personal - social ‌ 9 P48 19 19 + + language development delay - - DST:MI76, DQ72 P49 24 111 + + language development delay,learning difficulty,emotional abnormalities plump lateral ventricle , small cystic foci basic electrical activities in the posterior parts of both hemispheres are 8-9HZ rhythms and some δ, waves - P50 0 21 + + low calcium convulsions - - - Note: MRI: Brain magnetic resonance imaging; CT: brain computed tomography plain scan ; + Positive; - Unavailable data 3. Immune function characteristics The serum immunoglobulin level were available for 70.6%（36/51）patients (Table 3). Approximately two-third of the patients showed abnormal level. Elevated IgE levels (range: 172.41–6980 KU/L; reference <100 KU/L) were observed in 6 patients. Immunoglobulin abnormalities included elevated IgG and IgM (11 and 7 patients, respectively), decreased IgM and IgG (7 and 3 patients, respectively), and elevated or decreased IgA (8 and 3 patients, respectively). Lymphocyte subset analysis were available for 78.1%（40/51）patients (Table 4), which all had varying degrees of abnormalities. All the 40 patients were partial Digeorge. The results revealed normal total T-cell counts in 10 patients and reduced total T-cell counts in 30 patients. The others included decreased CD8⁺ and CD4⁺ lymphocytes cell counts in 27 and 28 patients, respectively. Total B-cell and NK-cell counts were decreased in 9 and 11 patients, respectively. Subset analysis in four patients showed increased CD4⁺ terminal T cells in three patients. Patient 34 （P34） exhibited elevated double-negative T cells with reduced memory B cells and naïve T cells. Two patients had markedly reduced γδ T-cell counts. Abnormal thymic volume was observed in 12 patients (23.5%), including one case of thymic aplasia. All patients received symptomatic anti-infective therapy, and immunomodulatory agents (thymopentin or IVIG) were administered to 20 patients (39.2%). After treatment with thymopentin or IVIG, the levels of reduced total T cells all had recovered to varying degrees. Table 3 Serum immunoglobulin level and lymphocyte subset detection Patient Immunophenotypic Age(month) CD3+ (cell/ul) CD3+ (%) CD3+CD4+ (cell/ul) CD3+CD4+ (%) CD3+CD8+ (cell/ul) CD3+CD8+ (%) CD19+ (cell/ul) CD19+ (%) CD16+CD56+(cell/ul) CD16+CD56+(%) IgG (g/L) IgM (g/L) IgA (g/L) Total IgE (KU/L) P1 - - - - - - - - - - - - - - - P2 - - - - - - - - - - - - - - - P3 - - - - - - - - - - - - - - - P4 3 2241 41.80% 1513 28.1%↓ 699 13%↓ 2833↑ 52.6%↑ 277↓ 5.2%↓ - - - - P5 5 2635 56.20% 2087 44.50% 492 10.5%↓ 1494 31.80% 518 11.07% - - - - P6 8 684↓ 22.8%↓ 510↓ 17%↓ 129↓ 4.3%↓ 1440 48%↑ 823 27.5%↑ 6.1 0.64 0.17 43.6 P7 6 1866↓ 65.40% 907↓ 31.83%↓ 906 31.80% 356↓ 12.4%↓ 581 20.4%↑ 7.47 1.29↑ 0.55 77.2 P8 8 327↓ 32.7%↓ 253↓ 25.3%↓ 71↓ 7.1%↓ 591↓ 59.1%↑ 63.4↓ 6.34% 8.2 0.67 0.75↑ - P9 4 780↓ 26%↓ 237↓ 8%↓ 233↓ 8%↓ 839 28% 1420↑ 47%↑ 9.1↑ 1.77↑ 0.52↑ 6980↑ P10 3 592↓ 50%↓ 398↓ 33%↓ 170↓ 14%↓ 260↓ 22% 283↓ 24%↑ 14.82↑ 3.24↑ 0.75↑ 536.4↑ P11 4 2145↓ 45.3%↓ 1318↓ 27.8%↓ 787 16.60% 2275↑ 48.1%↑ 271↓ 5.7%↓ 13↑ 0.33 0.44 15.6 P12 9 803↓ 43%↓ 572↓ 31%↓ 173↓ 9%↓ 841 45%↑ 188↓ 10% 6.3 1.37↑ 0.43 <2 P13 1 529↓ 24%↓ 400↓ 18%↓ 117↓ 5%↓ 1050 47%↑ 547 25%↑ 6.8 0.62 0.35 25.1 P14 7 2209↓ 46.1%↓ 1149↓ 24%↓ 1041 21.70% 1346 28.1%↑ 1142↑ 23.8%↑ - - - - P15 - - - - - - - - - - - - - - P16 - - - - - - - - - - - - - - P17 - - - - - - - - - - - - - - P18 - - - - - - - - - - - - - - - P19 - - - - - - - - - - - 5.72 0.3 0.22 - P20 2 913.8↓ 35.91%↓ 716.31↓ 28.15%↓ 177.85↓ 6.99%↓ 689.85 27.11% 920↑ 36.15%↑ 7.3 0.32 0.28 57.11 P21 77 735.3↓ 58.18%↓ 295.93↓ 23.42%↓ 372.94↓ 29.51% 283.85 22.46%↑ 191.75↓ 15.17% 11.1 1.44 1.77 8.93 P22 72 1691.1 45.46%↓ 795.13 21.38%↓ 664.35 17.86%↓ 798.61↑ 21.47% 1206.96 32.45%↑ 11.7 1.77 0.48 72.65 P23 7 1465↓ 38.94%↓ 1013.38↓ 26.94%↓ 391.02↓ 10.39%↓ 1644 43.7%↑ 609.98 16.21%↑ 4.7 0.3 0.2 13.91 P24 18 1371.15↓ 59.58% 815.17↓ 35.41% 363.81↓ 15.8%↓ 663.99 28.84%↑ 243.63↓ 10.58% 5.7 0.27 0.38 69.36 P25 8 4445.4 46.48%↓ 2035.01 21.28%↓ 2281↑ 23.85% 2665.96↑ 27.88% 2378.44↑ 24.87%↑ 11.7↑ 0.98 0.86↑ 15.87 P26 24 1987.2 34.9%↓ 983.04 17.26%↓ 788.16 13.84%↓ 1338.24 23.50% 2291.52↑ 40.24%↑ 21.1↑ 0.61 0.88↑ 57.97 P27 23 857↓ 45.6%↓ 374.63↓ 19.93%↓ 392.35↓ 20.88% 463.73 24.67% 524.09 27.89%↑ 4.2↓ 0.27↓ 0.1 9.22 P28 9 971.2↓ 29.51%↓ 725.28↓ 22.07%↓ 226.44↓ 6.88%↓ 1700.79 51.68%↑ 566.93 17.23%↑ 4.3 0.66 0.33 54.37 P29 9 1803.2↓ 47.95%↓ 949.42↓ 25.24%↓ 786.04 20.90% 1257.07 33.42%↑ 669.75 17.81%↑ 20.4↑ 1.6↑ 1.22↑ 195.95↑ P30 72 1199.7↓ 37.17%↓ 713.31 22.1%↓ 334.65↓ 10.37%↓ 770.98↑ 23.88%↑ 1237.67↑ 38.34%↑ 7.2 0.49↓ 1.85 12.72 P31 36 816.4↓ 43.1%↓ 482.76↓ 25.49%↓ 262.79↓ 13.87%↓ 724.88 38.27%↑ 320.36 16.91% 7.2 0.54↓ 1.74 23.02 P32 20 3854.4 63.69% 2315.53 38.26% 1315.9 21.74% 1475.59↑ 24.38% 680.25 11.24% 7 1.01 0.48 34.18 P33 21 1335.8↓ 42.36%↓ 1204.05 38.18% 96.72↓ 3.07%↓ 462.56↓ 14.67% 1333↑ 42.27%↑ 27.3↑ 8.2↑ 0.49 172.41↑ P34 20 1320.8↓ 44.18%↓ 914.98↓ 30.60% 355.42↓ 11.89%↓ 1406.09 47.03%↑ 235.95↓ 7.89% 11.5↑ 1.6 0.44 941.65↑ P35 5 453.1↓ 31.62%↓ 316.27↓ 22.07%↓ 124.81↓ 8.71%↓ 382.93↓ 26.72% 560.92 39.14%↑ 2.7↓ 0.33 0.14 23.1 P36 9 1018.8↓ 58.66%↓ 765.64↓ 44.08%↓ 187.74↓ 10.81%↓ 448.2↓ 25.81% 248.57 14.31% 2.14↓ 0.33↓ 0.14 40.25 P37 0.2 677.4↓ 53.99%↓ 414.89↓ 33.07%↓ 258.34↓ 20.59% 293.19↓ 23.37% 240.91↓ 19.2%↑ 6.6 0.3↓ 0.02↓ 12 P38 65 1558.5 54.89%↓ 944.96 33.28% 525.12↓ 18.49%↓ 548.52 19.32% 700.59↑ 24.67%↑ 11.1 0.38↓ 1.01 5.83 P39 0.5 1958.9 66.93% 1300.5↓ 44.44% 652.19↓ 22.28% 295.39↓ 10.09% 636.65 21.75%↑ - - - - P40 1.5 880.26↓ 38.21%↓ 641.91↓ 27.86%↓ 227.10↓ 9.86%↓ 831.04 36.07%↑ 547 23.74%↑ 5.81 0.19 0.12 13.6 P41 9 971.3↓ 30.93%↓ 438.65↓ 13.97%↓ 511.12↓ 16.27% 997.89 31.77%↑ 1131.76↑ 36.03%↑ 9.6↑ 1.42↑ 0.73↑ 48.4 P42 - - - - - - - - - - - - - - - P43 50 1348↓ 47.87%↓ 712.59 25.31%↓ 587.81 20.87% 771.7↑ 27.41%↑ 661.69 23.5%↑ 8.9 0.98 1.08 26.05 P44 36 2866.38 58.44% 1580.37 32.22% 1106.47 22.56% 1453.02 29.62%↑ 505.22 10.30% - - - 44.9 P45 - - - - - - - - - - - - - - - P46 84 1859.09 59.02%↓ 1111.6 35.29% 615.48 19.54%↓ 289.86↓ 9.2%↓ 971.90↑ 30.85% 15.22↑ 0.83 1.21 381.2↑ P47 48 1367.9↓ 53.35%↓ 827.58↓ 32.28% 434.48↓ 16.95%↓ 935.17 36.48%↑ 221.67↓ 8.65% 6.36 1.48 0.66 39.4 P48 12 1528.9↓ 54.67% 795.12↓ 28.43% 642.05 22.96% 815.57 29.16%↑ 418.88 14.98% 5.81 0.58↓ 0.28↓ 26.7 P49 92 1230.8↓ 60.71% 604.56↓ 29.82% 475.97↓ 23.48% 532.75 26.28%↑ 228.80↓ 11.29% 17.6↑ 1.52 0.21↓ 12.79 P50 30 1091.9↓ 48.77%↓ 602.55↓ 26.92% 319.8↓ 14.29%↓ 811.18 36.24%↑ 290.29 12.97% 8.6 0.88 1.65↑ 78.41 P51 - - - - - - - - - - - - - - - Note: The above immunology manifestations are the patients’ first check to the number of peripheral blood lymphocytes. Lymphocyte abnormal value among different age according to Reference Values for Peripheral Blood Lymphocyte Subsets of Healthy Children in China [9] . The reference value of IgG, IgA, IgM and IgE list according to age respectively. 1-3m 2.75–7.50 g/L, 0.05–0.60 g/L, 0.10-0.70 g/L and < 100 KU/L; 4-6m 3.7–8.3g/L, 0.14–0.5 g/L, 0.33-1.25 g/L and < 100KU/L;7-11m 3.5–8.9 g/L, 0.06-0.54 g/L, 0.36-1.2g/L and < 100 KU/L;12-36m 5.52–11.46 g/L, 0.06-0.74 g/L, 0.6-2.12 g/L and < 100 KU/L.- Unavailable data Table 4 Immunology manifestations of precise classification of T and B lymphocytes P25（%） P26（%） P34（%） P35（%） Total T cells 51.09 37.03↓ 56.33 30.99↓ CD4+ cells 21.18↓ 13.97↓ 38.59 21.14↓ CD8+ cells 29.16 18.59 17.7 8.34↓ Double-negative T cells 2.02 13.06↑ 6.89↑ 4.91 TCRaβ+ double-negative T cells 0.51 0.71 0.04↓ 0.69 TCRγδ+T cells 1.77↓ 6.37 7.86 1.01↓ CD4+ naive T cells 79.94 62.71 20.81↓ 60.13 CD4+ Central memory T cells 13.35 30.2 26.19 29.32 CD4+ effector memory T cells 2.05 4.98↑ 51.25↑ 9.24↑ CD4+ terminal T cells 4.66↑ 2.11↑ 1.74↑ 1.31 CD8+ naiveT cells 41.86↓ 53.25 12.98↓ 84.52 CD8+ Central memory T cells 3.51↓ 19.95 19.38 11.11 CD8+ effector memory T cells 3.75 2.99 60.21↑ 3.6 CD8+ end-stage T cells 50.88↑ 23.81 7.44 0.77 CD19+B cells 27.84 27.59 27.54 31.7↑ Initial B cells 88.64 85.5 92.95↑ 96.56 B cells in the marginal zone 2.59↓ 6.42 1.51↓ 2.14↓ Memory B cells 5.28 4.46 1.75↓ 0.24↓ Transitional B cells 15.94 9.38 1.95↓ 24.18 Plasmacytocyte 3.69 0.74 0.04↓ 0.06↓ Note: The above immunology manifestations are the patients’first check to the number of peripheral blood lymphocytes. Lymphocyte abnormal value among different age according to Reference Values for Peripheral Blood Lymphocyte Subsets of Healthy Children in China [9] . 3. Follow-up and outcomes Follow-up data (Table 5) were available for 45 patients (median age: 13.5 years; range: 1.7–17 years). Three patients were lost in follow-up. Persistent occurrence of clinical symptoms were found in 12 patients (26.7%). The most common was recurrent respiratory tract infections (9 patients). Other ongoing issues included recurrent allergies, eczema, recurrent rhinitis, and thrombocytopenia (each 1 patient). Immunomodulatory therapy was continued in 7 patients (15.6%). Endocrine abnormalities persisted in 11 patients, including hypocalcemia (3 patients) and hypothyroidism (1 patient),short stature(8 patients). Neurological impairments were identified in 32 patients (71.1%), with learning difficulties being the most common (20 patients). Other prevalent issues included language development delay (10 patients) and cognitive and developmental delay (3 patients). Additional manifestations included hearing impairment (1 patient), cerebral palsy (1 patient), quadriplegia (1 patient), emotional abnormalities (2 patient), seizures (1 patient), and attention deficit hyperactivity disorder (2 patients). Table 5 Follow-up of results of 22q11.2DS Patient Current age(year) Immunodeficiency manifestations Neurological manifestations Endocrine manifestations Current treatment P1 15 N learning difficulty - - P2 17 N N - - P3 15 N N - - P4 12 N learning difficulty N - P5 12 N N - - P6 13 N N - - P7 12 N learning difficulty hypocalcemia, short stature - P8 14 N N - - P9 lost - - - - P12 14 N cognitive and development delay - P13 14 N language development delay, learning difficulty hypocalcemia - P14 13 N learning difficulty N - P15 12 N learning difficulty N - P16 12 N N - - P18 12 N language development delay, learning difficulty N - P19 13 N N - - P20 2.5 recurrent respiratory tract infection language development delay short stature thymopentin P21 13 N learning difficulty, seizures hypocalcemia - P22 6 recurrent respiratory tract infection language development delay hypothyroidism thymopentin P23 5 N language development delay - - P24 6 repeated allergies, eczema language development delay, ADHD - - P25 1.7 N language development delay short stature - P26 lost - - - - P27 6 recurrent respiratory tract infection language development delay short stature thymopentin P28 9 recurrent respiratory tract infection ADHD - - P29 7 recurrent respiratory tract infection - short stature - P30 8 recurrent respiratory tract infection N N thymopentin P31 10 recurrent rhinitis learning difficulty, emotional abnormalities N - P32 7 N learning difficulty N - P33 9 N N - thymopentin, immunoglobulin P34 3.5 recurrent respiratory tract infection short stature thymopentin P35 lost - - - - P36 4 N cognitive and developmental delay N - P37 6 N N N - P38 11 recurrent respiratory tract infection learning difficulty - thymopentin P39 9 N learning difficulty, cognitive and developmental delay N - P40 6 N N N - P41 11 thrombocytopenia learning difficulty short stature - P42 12 N learning difficulty, emotional abnormalities - - P43 10.7 N learning difficulty, short stature - P44 13 N learning difficulty N - P45 13 N cerebral palsy, quadriplegia - - P46 17 N learning difficulty - - P47 11 N language development delay, learning difficulty N - P48 9 N N - - P49 14 N N - - P50 8 recurrent respiratory tract infection learning difficulty N - P51 12 N learning difficulty, language development delay, poor hearing N - Note: ADHD- Attention deficit hyperactivity disorder; N-Normal; - Unavailable data Discussion 22q11.2 deletion syndrome is a multisystem disorder caused by a heterozygous 3 Mb microdeletion within the 22q11.2 chromosomal region [ 15 ] . However, hemizygosity of the affected genes does not fully account for the considerable phenotypic variability observed among patients, additional mutations in genes located outside the deleted region, leading to “dual diagnosis”, have been described in 1% of patients. Besides, the genetic and epigenetic mechanisms implicated in the pathogenesis of the clinical manifestations of 22q11.2 DS [ 16 ] . One Chinese cohort found that all 43 of their study participants with 22q11.2 DS had typical facial findings consisting of a vertically long face, narrow palpebral fissures, flesh nose with a broad nasal root, flattened malar region, retrognathia, and overfolded helix [ 17 ] . In our cohort, facial dysmorphism was observed in 31.4% of patients, the most prevalent features in our study included asymmetric crying facies and small jaw. We speculated that this might be due to in our cohort aged 0 to 99 months resulting the inconsistent facial features. Palatopharyngeal anomalies were identified in 21.6% of patients, which is notably lower than the 67% reported in the literature [ 18 ] . Another Literature indicate that palatopharyngeal abnormalities are present in 49%-69% of 22q11.2 patients [ 19 ] . This discrepancy may reflect ethnic differences, variability in diagnostic scrutiny, or the influence of local genetic backgrounds. Patients with velopharyngeal insufficiency, which may cause serious disorders in functional speech, with poor intelligibility, a glottal stop with hypernasality and a pharyngeal fricative, and dropping and weakening of consonants [ 20 ] . Therefore, specialized therapy and long-term clinical follow-up are necessary to velopharyngeal disfunction with 22q11.2DS. The most frequent endocrine disorders associated with DGS/VCFS are short stature, hypocalcemia, thymic related immunodeficiency, and, less frequently, autoimmune and thyroid disorders [ 21 ] . Another literature reported that Deletions of 22ql1.2 are associated with a number of endocrine disorders, most commonly hypoparathyroidism, hypothyroidism and growth hormone deficiency [ 22 ] . In our cohort, hypoparathyroidism ,hypocalcemia hypothyroidism and short stature were the most common, which were consistent with literature. As for treatment, five patients exhibited hypothyroidism requiring lifelong thyroxine replacement, and two presented with short stature associated with growth hormone deficiency, treating with growth hormone regularly. These findings reinforce the need for systematic monitoring of calcium-parathyroid axis, thyroid function, and growth parameters in this population to enable early intervention and prevent complications. Approximately 60–80% of patients have a cardiac malformation most commonly including a subset of conotruncal defects (tetralogy of Fallot, truncus arteriosus, interrupted aortic arch type B), conoventricular and/or atrial septal defects, and aortic arch anomalies [ 23 ] . Congenital heart disease was present in 76.5% of our patients, aligning closely with the above reported rates. Ventricular and atrial septal defects were the most common cardiac anomalies in our study, consistent with established literature. It is noteworthy that children with 22q11.2 DS face elevated risks of postoperative complications following cardiac surgery, including infections and renal impairment [ 24 ] . These findings underscore the necessity of early genetic diagnosis to inform surgical planning and perioperative management. Complete absence of thymus, though very rare and affecting less than 1% of patients with 22q11.2DS, is associated with a form of severe combined immunodeficiency (SCID). The degree of immunodeficiency can present differently depending on the extent of thymic hypoplasia [ 25 ] . The immune deficiency also affects the humoral function of the immune system. This is thought to be the result of aberrant T cell help rather than B cell exhaustion evidenced by normal bone marrow B cell output as measured by kappa-deleting recombination excision circles (KRECs) [ 26 ] . Besides, In terms of the humoral immune deficiency, there may be low gamma globulinemia, poor specific antibody response, and changes in B cell maturation. The fundamental cause of abnormal B cell maturation is likely to be impaired T cell assistance, rather than abnormal B cell proliferation or exhaustion [ 27 ] . Previous reports found that > 30% of patients had an antibody defect, which could contribute to an increased risk of recurrent infections and up to 6% of 22q11.2DS have low IgG levels (defined as < 500 mg/dL) after 3 years of age [ 28 ] . Selective IgA deficiency is present in up to 13% of 22q11.2DS [ 29 ] . Selective IgM deficiency is less common but has also been reported in association with 22q11.2DS [ 30 , 31 ] .The immunological profile of our cohort was characterized by T-cell deficiency and B- cell deficiency in a substantial number of patients, correlating with the high prevalence of thymic hypoplasia/aplasia (23.5%). Besides, 40 patients were all Partial Digeorge by immunophenotyping characteristics. The possible reason was that the incidence rate of complete Digeorge was low and our sample size was small. The proportion of patients with decreased lgG level or decreased lgM level or decreased lgA level was8.3%, 19.4%, 8.3% respectively. In a cohort, 63 of the 74 patients (85%) had a history of recurrent infections. Recurrent respiratory tract infections were reported in 58 patients (78%), more than ear infections in 31 (42%) and pneumonias in 16 patients (22%), respectively [ 32 ] . Notably, patients in our cohort occurred with recurrent respiratory infections (17.6%), recurrent pneumonia (13.7%) and septicemia (7.8%), which was lower than that reported. We speculated that the widespread use of immunomodulatory therapies (thymopentin or IVIG) in our cohort (39.2%) may have contributed to this reduced infection rate. McDonald-McGinn,etal reported that the majority of patients with the deletion are modestly immunocompromised and do not develop opportunistic infections. Viral infections can be prolonged, and abnormal palatal anatomy may lead to compromised drainage and an increased susceptibility to upper airway bacterial infections. Approximately one-quarter to one-third of the patients had either recurrent sinusitis or otitis media, and 4%-7% had recurrent lower airway infections [ 33 ] . In terms of our cohort, the spectrum of opportunistic pathogenic highlighted a predominance of Streptococcus viridans, Pseudomonas aeruginosa, and Neisseria species. As for virus, CMV and respiratory syncytial virus were the most common, emphasizing the need for vigilant microbiological surveillance in these immunocompromised patients. Neurological and neurodevelopmental abnormalities represented a major clinical concern with affecting 58.8% of patients at initial assessment and increasing to 71.1% during follow-up in our study. Patients with 22q11.2 DS are at elevated risk for a spectrum of neurological manifestations, including epilepsy, neuropsychiatric disorders, and structural brain abnormalities [ 34 ] . One study showed that acute symptomatic seizures such as hypoglycemia and epilepsy are more common in children with 22q11.2DS relative to the general pediatric population [ 35 , 36 ] . In regard to unprovoked seizures, the percentage of patients meeting the criteria of epilepsy varies from 4% [ 37 ] to 15.2% [ 36 ] , depending on the study. In our study, 30% of patients were diagnosed with epilepsy, while hypocalcemic seizures occurred in 26.7%. The relatively high prevalence of epilepsy and hypocalcemic seizures in our cohort may reflect earlier detection and diagnosis in pediatric settings. These findings underscored the necessity of longitudinal neurological and developmental follow-up to monitor disease progression and implement timely interventions. The reported patterns of neuroimaging abnormalities in 22q11.2DS included reduced surface area, cortical thickening with regional thinning, and subcortical changes [ 38 ] . Mouse models indicate decreased neural progenitors in layers 2/3 may underlie aberrant connectivity [ 39 ] . Our results found that cerebral dysgenesis and subdural hemorrhage were the most common, further supporting structure-function correlations, which was basically consistent with literature. 22q11.2DS is a multisystem genetic disorder necessitating lifelong multidisciplinary care, particularly during the transition from pediatric to adult services [ 4 ] . Longitudinal follow-up is crucial for early detection of comorbidities and quality-of-life improvement. Our cohort exhibited recurrent respiratory infections in 9 patients and ongoing immunomodulatory therapy in 7 patients, which was inconsistent with one literature repoted that only 40% of patients aged > 9 years with the deletion were thought to be as healthy as others their age [ 33 ] . Furthermore, we found that neurodevelopmental and psychiatric manifestations progressed over time, affecting 71.1% of patients during follow-up, predominantly learning difficulties, language development delay and cognitive development delay. These observations align with established evidence of cognitive inflexibility and social cognition deficits in adulthood [ 40 ][ 41 ] . Consequently, long-term care strategies should emphasize regular monitoring and early intervention for both immunological and neuropsychiatric sequelae. This study has several limitations, including its retrospective design and modest sample size, which may limit the generalizability of the findings. In addition, the single-center nature of the study may introduce selection bias. Nevertheless, our findings first provided valuable insights into the phenotypic expression of 22q11.2 DS in a Chinese pediatric cohort. In conclusion, our results affirm that T-cell immunodeficiency and neurodevelopmental abnormalities are core features of 22q11.2 DS critically influencing long-term outcomes. Early genetic testing should be considered in children presenting with congenital heart disease, unexplained hypocalcemia, seizures, or recurrent infections. Comprehensive and prolonged follow-up, involving immunology, neurology, endocrinology, and mental health services, is essential to optimize quality of life and functional outcomes in these patients. Declarations Publishing Units: Department of Pediatric Immunology at Fudan Children’s hospital Ethics: Fudan University Pediatric Ethics Review [2025] 198, Study on the Association between 22q11.2DS Immunodeficiency and Neurodevelopmental Abnormalities, which is in accordance with the “Declaration of Helsinki”; Ethics Committee of Children's Hospital of Fudan University. Human Ethics and Consent to Participate declarations: not applicable. Clinical trial number: not applicable Author contribution: Wei Dong is the one responsible for collecting the data and writing the paper. Haili Yao is the director in charge of managing these 22q11.2DS patients. Professor Xiaochuan Wang is my supervisor, the person responsible for the article's conception and overall management of the patients, and Bijun Sun is the one responsible for providing 30% of the case data. Wenjie,Wang is in charge of managing these 22q11.2DS patients. Jinqiao,Sun is in charge of managing these 22q11.2DS patients.;Qinhua,zhou is in charge of managing these 22q11.2DS patients.;Jia,Hou is in charge of managing these 22q11.2DS patients.;Wenjing,Ying is in charge of managing these 22q11.2DS patients.;Chenghao,Wang is in charge of managing these 22q11.2DS patients.;Luyao,Liu is in charge of managing these 22q11.2DS patients.;Lipin,Liu is in charge of managing these 22q11.2DS patients. Data availability：All the data of the patients can be obtained completely. All the data are original data. All authors have no conflicts of interest. All authors work in Department of Pediatric Immunology at Fudan Children’s hospital Conflict of interest declaration: All the data are original data. All authors have no conflicts of interest. The article was not submitted to other publications. After being accepted by the magazine, the copyright of the article belongs to the magazine. Acknowledgement: We are grateful to the patients and their parents for their participation and cooperation in this study. We thank the Bioinformatics Team of Fudan University Children's Hospital for whole-exome sequencing(WES). Funding: The Shanghai Municipal Science and Technology Major Project, Grant/Award Number: ZD2021CY001. References Olsen L, Sparsø T, Weinsheimer SM, et al. Prevalence of rearrangements in the 22q11.2 region and population-based risk of neuropsychiatric and developmental disorders in a Danish population: a case-cohort study. Lancet Psychiatry. 2018;5(7):573–80. Biggs SE, Gilchrist B, May KR. 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Caffey’s Pediatric Diagnostic Imaging, 2-Volume Set, 12th ed.1784 pp., Hardcover, ISBN: 978-0323081764. Cirillo A, Lioncino M, Maratea A,etal. Clinical Manifestations of 22q11.2 Deletion Syndrome. Heart Fail Clin. 2022 Jan;18(1):155-164. Cillo F, Coppola E, Habetswallner F, etal. Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors. Genes (Basel). 2024 Feb 29;15(3):321. Wu D, Chen Y, Xu C, etal. Characteristic face: a key indicator for direct diagnosis of 22q11.2 deletions in Chinese velocardiofacial syndrome patients. PLoS One. 2013;8(1):e54404. Jackson O, Crowley TB, Sharkus R, etal. Palatal evaluation and treatment in 22q11.2 deletion syndrome. Am J Med Genet A.2019;179:1184-95. Monteiro FP, Vieira TP, Sgardioli IC, etal. Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature. Eur J Pediatr. 2013 Jul;172(7):927-45. Jiang L, Yang Y, Liu Q. Speech Therapy in Velocardiofacial Syndrome After Palatopharyngeal Pharyngoplasty. J Craniofac Surg. 2018 Oct;29(7):1709-1712. Kitsiou-Tzeli S, Kolialexi A, Mavrou A. Endocrine manifestations in DiGeorge and other microdeletion syndromes related to 22q11.2. Hormones (Athens). 2005 Oct-Dec;4(4):200-9. Brown JJ, Datta V, Browning MJ, etal. Graves' disease in DiGeorge syndrome: patient report with a review of endocrine autoimmunity associated with 22q11.2 deletion. J Pediatr Endocrinol Metab. 2004 Nov;17(11):1575-9. Goldmuntz E. 22q11.2 deletion syndrome and congenital heart disease. Am J Med Genet C Semin Med Genet. 2020 Mar;184(1):64-72. Mcdonald R, Dodgen A, Goyal S, et al. Impact of 22q11.2 deletion on the postoperative course of children after cardiac surgery[J].Pediatr Cardiol,2013,34(2):341–347. Lackey AE, Muzio MR. DiGeorge Syndrome. 2023 Aug 8. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–. PMID: 31747205. Kuo CY, Signer R, Saitta SC. Immune and Genetic Features of the Chromosome 22q11.2 Deletion (DiGeorge Syndrome). Curr Allergy Asthma Rep. 2018 Oct 30;18(12):75. Biggs SE, Gilchrist B, May KR. Chromosome 22q11.2 Deletion (DiGeorge Syndrome): Immunologic Features, Diagnosis, and Management. Curr Allergy Asthma Rep. 2023 Apr;23(4):213-222. Patel K, Akhter J, Kobrynski L, et al. Immunoglobulin deficiencies: the B-lymphocyte side of DiGeorge syndrome. J Pediatr. 2012;161(5):950–3. Smith CA, Driscoll DA, Emanuel BS, etal. Increased prevalence of immunoglobulin A deficiency in patients with the chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome) Clin Diagn Lab Immunol. 1998;5(3):415–417. Al-Herz W, McGeady SJ, Gripp KW. 22q11.2 deletion syndrome and selective IgM deficiency: an association of a common chromosomal abnormality with a rare immunodeficiency. Am J Med Genet A. 2004;127A(1):99–100. Kung SJ, Gripp KW, Stephan MJ, etal. Selective IgM deficiency and 22q11.2 deletion syndrome. Ann Allergy Asthma Immunol. 2007;99(1):87–92. Óskarsdóttir, S. ∙ Persson, C. ∙ Eriksson, B.O, etal. Presenting phenotype in 100 children with the 22q11 deletion syndrome Eur J Pediatr. 2005; 164:146-153. Mcdonald-Mcginn DM, Sullivan KE.Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)[J].Medicine (Baltimore),2011,90(1):1–18. AlKalaf HY, AlHashem AM, AlSaleh NS,etal. Epilepsy, neuropsychiatric phenotypes, neuroimaging findings, and genotype-neurophenotype correlation in 22q11.2 deletion syndrome. Neurosciences (Riyadh). 2020 Aug;25(4):287-291. Kao A, Mariani J, McDonald-McGinn DM, et al. Increased prevalence of unprovoked seizures in patients with a 22q11.2 deletion. Am J Med Genet A 2004; 129A: 29–34. Kim EH, Yum MS, Lee BH, et al. Epilepsy and other neuropsychiatric manifestations in children and adolescents with 22q11.2 deletion syndrome. J Clin Neurol 2016; 12: 85–92. Wither RG, Borlot F, MacDonald A, etal. 22q11.2.2 deletion syndrome lowers seizure threshold in adult patients without epilepsy.2017.58(6):1095–1101. Ge R, Ching CRK, Bassett AS, etal. Source-based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome. Hum Brain Mapp. 2024 Jan;45(1):e26553. Meechan DW, Tucker ES, Maynard TM, etal. Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome. Proc Natl Acad Sci USA. 2009;106:16434-45. Antshel KM, Fremont W, Ramanathan S,etal. Predicting Cognition and Psychosis in Young Adults With 22q11.2 Deletion Syndrome. Schizophrenia Bulletin.2017;43(4), 833–842. Demily C, Rossi M, Schneider M, etal. Perspectives actuelles dans la microdélétion 22q11.2 : prise en charge du phénotype neurocomportemental [Neurocognitive and psychiatric management of the 22q11.2 deletion syndrome]. Encephale. 2015 Jun;41(3):266-73. French. 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Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-9443851","acceptedTermsAndConditions":true,"allowDirectSubmit":false,"archivedVersions":[],"articleType":"Research Article","associatedPublications":[],"authors":[{"id":628616089,"identity":"7ba3b567-85c7-4f45-9e11-6aeea5622f07","order_by":0,"name":"Wei Dong","email":"","orcid":"","institution":"Children's Hospital of Fudan University","correspondingAuthor":false,"prefix":"","firstName":"Wei","middleName":"","lastName":"Dong","suffix":""},{"id":628616092,"identity":"4c3f7968-4baf-4696-9f1f-d5c04a7056df","order_by":1,"name":"Haili Yao","email":"","orcid":"","institution":"Children's Hospital of Fudan University","correspondingAuthor":false,"prefix":"","firstName":"Haili","middleName":"","lastName":"Yao","suffix":""},{"id":628616096,"identity":"68e69356-da13-402e-b2f2-41f8af446640","order_by":2,"name":"Wenjie Wang","email":"","orcid":"","institution":"Children's Hospital of Fudan University","correspondingAuthor":false,"prefix":"","firstName":"Wenjie","middleName":"","lastName":"Wang","suffix":""},{"id":628616100,"identity":"4637e673-dc84-4842-a1b2-ae187e0be2d7","order_by":3,"name":"Jinqiao Sun","email":"","orcid":"","institution":"Children's Hospital of Fudan University","correspondingAuthor":false,"prefix":"","firstName":"Jinqiao","middleName":"","lastName":"Sun","suffix":""},{"id":628616102,"identity":"ae88dc05-e664-471e-9b80-6b3b92d93f4d","order_by":4,"name":"Qinhua Zhou","email":"","orcid":"","institution":"Children's Hospital of Fudan 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04:23:13","currentVersionCode":1,"declarations":"","doi":"10.21203/rs.3.rs-9443851/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-9443851/v1","draftVersion":[],"editorialEvents":[],"editorialNote":"","failedWorkflow":false,"files":[{"id":108389733,"identity":"d58775dd-b3ff-4eda-9ea8-a52352b3f71e","added_by":"auto","created_at":"2026-05-04 06:52:06","extension":"jpeg","order_by":1,"title":"Figure 1","display":"","copyAsset":false,"role":"figure","size":103757,"visible":true,"origin":"","legend":"\u003cp\u003eInfection classification of 22q11.2 DS\u003c/p\u003e","description":"","filename":"floatimage1.jpeg","url":"https://assets-eu.researchsquare.com/files/rs-9443851/v1/a1e16ad1463a623e74e966ef.jpeg"},{"id":108492371,"identity":"caa05677-749a-4134-ae10-7de71b2c07b1","added_by":"auto","created_at":"2026-05-05 09:57:36","extension":"png","order_by":2,"title":"Figure 2","display":"","copyAsset":false,"role":"figure","size":93568,"visible":true,"origin":"","legend":"\u003cp\u003ePathogen classification of 22q11.2 DS\u003c/p\u003e","description":"","filename":"floatimage2.png","url":"https://assets-eu.researchsquare.com/files/rs-9443851/v1/1ddab66cc98adcdafe89f261.png"},{"id":108804102,"identity":"9bcfac24-3b1e-4b1c-aa47-50c86bd666ad","added_by":"auto","created_at":"2026-05-08 15:15:53","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":1198700,"visible":true,"origin":"","legend":"","description":"","filename":"manuscript.pdf","url":"https://assets-eu.researchsquare.com/files/rs-9443851/v1/3fe73668-422f-47ea-b6c0-e0a0c3fda2c4.pdf"}],"financialInterests":"No competing interests reported.","formattedTitle":"The Clinical phenotypes and Follow-up of 51 Chinese patients with 22q11.2 Deletion Syndrome","fulltext":[{"header":"Introduction","content":"\u003cp\u003e22q11.2 deletion syndrome(22q11DS), also referred to as DiGeorge or velocardiofacial syndrome, is a microdeletion disorder with an estimated incidence of 1 in 2000\u0026ndash;4000 live births\u003csup\u003e[\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e]\u003c/sup\u003e. The deletion typically involves approximately 50 protein-coding genes within the q11.2 region of chromosome 22, leading to highly variable phenotypic expression, including facial dysmorphism, congenital cardiac and palatal malformations, immune deficiencies, endocrine dysfunction, hypocalcemia, and neurodevelopmental impairments\u003csup\u003e[\u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e]\u003c/sup\u003e. Additional associated features encompass renal anomalies, hearing loss, growth retardation, psychiatric disorders, and feeding difficulties \u003csup\u003e[\u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e]\u003c/sup\u003e. Comprehensive management of pediatric patients with 22q11.2 DS is crucial for early identification, assessment, monitoring, and treatment of associated conditions to enhance survival and quality of life into adulthood.\u003c/p\u003e \u003cp\u003e22q11.2 DS can be categorized into several subtypes: 22q11.2 deletion without T-cell lymphopenia, with mild or significant T-cell lymphopenia, with congenital athymia, and with congenital athymia and autoimmune dysregulation (Omenn-like syndrome)\u003csup\u003e[\u003cspan citationid=\"CR4\" class=\"CitationRef\"\u003e4\u003c/span\u003e]\u003c/sup\u003e. Studies indicate that 75\u0026ndash;80% of patients exhibit immune system abnormalities, including increased susceptibility to infections, autoimmune diseases and atopic reactions\u003csup\u003e[\u003cspan citationid=\"CR5\" class=\"CitationRef\"\u003e5\u003c/span\u003e]\u003c/sup\u003e. T-cell counts, which correlate with thymic size in early childhood, are often reduced. The gene deletion effects on secondary lymphoid organs or cell-intrinsic effects on lymphocytes could play a role in clinical immune concerns during adulthood in 22qDS\u003csup\u003e[\u003cspan citationid=\"CR6\" class=\"CitationRef\"\u003e6\u003c/span\u003e]\u003c/sup\u003e. Neurological manifestations frequently include learning disabilities, autism spectrum disorder (ASD), cognitive deficits and speech delays, visuospatial and arithmetic impairments, attention deficit hyperactivity disorder (ADHD), and coordination deficits. Approximately 30% of patients develop schizophrenia, representing a 12- to 80-fold increased risk compared to the general population\u003csup\u003e[\u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e]\u003c/sup\u003e. These features are strongly associated with long-term prognosis and adult outcomes.\u003c/p\u003e \u003cp\u003eUntil now, The largest cohort in China was studying fetal phenotypic and genotypic characteristics of 64 22qDS fetus\u003csup\u003e[\u003cspan citationid=\"CR8\" class=\"CitationRef\"\u003e8\u003c/span\u003e]\u003c/sup\u003e. However, Zhao Yingjie etal. evaluated IQ scores in 1,478 subjects with 22q11.2DS and results indicate that haploinsufficiency of genes in the LCR22B-D region (BD) exert an additional negative impact on IQ\u003csup\u003e[\u003cspan citationid=\"CR9\" class=\"CitationRef\"\u003e9\u003c/span\u003e]\u003c/sup\u003e. But they all don\u0026rsquo;t systematic description of clinical phenotypes and immunodeficiency characteristics. Ella Nissan,etal reported general information, laboratory results, and clinical features with 98 patients of DiGeorge syndrome\u003csup\u003e[\u003cspan citationid=\"CR10\" class=\"CitationRef\"\u003e10\u003c/span\u003e]\u003c/sup\u003e. So, there is a scarcity of systematic analyses focusing on the phenotypic spectrum of 22q11.2 DS in Chinese pediatric populations. Therefore, we conducted a retrospective review of clinical, immunological, and neurological manifestations among patients diagnosed at our institution. This study aims to enhance the understanding of 22q11.2 DS and improve clinical management and quality of life for affected children in China.\u003c/p\u003e"},{"header":"Methods","content":"\u003cp\u003e\u003cstrong\u003ePatients\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eWe retrospectively collected data from 51 pediatric patients with a confirmed genetic diagnosis of 22q11.2 deletion syndrome treated in the Department of Pediatric Immunology at Fudan University in the period from August 2008 to October 2024. Data included genetic, clinical, immunological, neurological and imaging findings retrieved from electronic medical records. A subset of patients underwent intellectual assessment. Written informed consent was obtained from the parents of all participating patients, and the study was approved by the Ethics Committee of the Children\u0026rsquo;s Hospital of Fudan University.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eGenetic diagnostic methods\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eDiagnosis was confirmed using FISH with a dual-color DNA probe (Vysis LSI TUPLE1, Abbott), MLPA (SALSA MLPA P250 kit, MRC Holland), aCGH (Agilent Custom Human Genome CGH Microarray 4\u0026times;180K), or WES. For WES, genomic DNA was extracted from patient and parental blood samples. Genomic DNA fragments were enriched for the target region of the consensus coding sequence exons and subsequently sequenced on the HiSeq 2000 sequencer(Illumina, San Diego, CA). The raw data were mapped to the human genome reference sequence (hg19). Nucleotide changes observed in more than 5% of the aligned reads were called and reviewed with NextGENe software (SoftGenetics, State College, PA).\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eSerum immunoglobulin and lymphocyte subset detection\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eAs previously reported\u003csup\u003e\u0026nbsp;[11]\u003c/sup\u003e, serum IgG, IgA and IgM were determined by an automated clinical chemistry analyzer (Erba Diagnostics, Mannheim, Germany). IgE was assessed with UniCAP (Pharmacia, Uppsala, Sweden). Flow cytometry was performed according to our previously published protocol\u003csup\u003e[12]\u003c/sup\u003e. Lymphocyte subsets were analyzed by flow cytometry (FACSCalibur, BD Biosciences) using BD Multitest IMK kits and additional markers for T-cell and B-cell subpopulations. T cell subsets were defined by antihuman CD3 (PerCP-Cy5.5), anti-CD8(BV510),anti-CD4,(FITC; fluorescein isothiocyanate), anti-CD27 (APC;allophycocyanin), anti-CD45RA (PE-Cy7), anti-TCR\u0026alpha;\u0026beta;(PE; phycoerythrin) and anti-TCR\u0026gamma;\u0026delta;\u0026nbsp;(BV421). The following B cell subsets were detected: anti-CD19 (APC),anti-human CD24 (PE), anti-CD27 (BV450), anti-CD38(PerCP-Cy5.5) and anti-IgD (BV510) (BD Biosciences).\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eDiagnosis of Neurological abnormalities\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eNeurological abnormalities were evaluated based on clinical manifestations,\u0026nbsp;intelligence assessment, brain magnetic resonance imaging (MRI), brain computed tomography plain scan (CT) and electroencephalogram (EEG). Diagnostic criteria referred to \u0026quot; Nelson Textbook of Pediatrics\u003csup\u003e[13]\u003c/sup\u003e \u0026quot;. Classification mainly included cognitive and developmental delay, epilepsy, ataxia, and microcephaly, etc. Intelligence assessment was performed according to age-appropriate standards. Thymus size was assessed via chest imaging (chest X rays and CT). Brain MRI and CT abnormalities were interpreted with reference to \u0026quot;CAFFEY\u0026rsquo;S Pediatric Diagnostic Imaging\u003csup\u003e[14]\u003c/sup\u003e \u0026quot;, including brain dysplasia (widened subarachnoid space, widened sulci and fissures, enlarged ventricles), brain atrophy (reduced brain volume, widened sulci and fissures), cerebellar dysplasia (reduced cerebellar volume, widened cerebellar sulci)，corpus callosum dysplasia (partial absence) and intracerebral injury foci (cortical signal abnormalities, white matter reduction).\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eStatistical Analysis\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eNormally distributed measurement data are expressed as mean \u0026plusmn; standard deviation, while non-normally distributed data are expressed as median and the interquartile range (Q1-Q3). Categorical data are expressed as frequency and percentage. Descriptive analysis was conducted on clinical phenotype data.\u003c/p\u003e"},{"header":"Results","content":"\u003cp\u003e\u003cstrong\u003e1.\u003c/strong\u003e \u003cstrong\u003eDemographic Features\u0026nbsp;\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eFifty-one patients were diagnosed with 22q11.2 DS, with a female-to-male ratio of 21:30 and a median age at diagnosis of 4 months (range: 0\u0026ndash;99 months). All patients were from nonconsanguineous families. General clinical features are detailed in Table 1.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003e2. Clinical manifestations\u0026nbsp;\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003e2.1 Facial dysmorphism\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eFacial dysmorphism occurred in 31.4% (16/51) of patients. Three cases exhibited a small mouth and nose with asymmetric crying facies; four had micrognathia; one had microcephaly. Other features included a spherical nasal tip, ocular hypertelorism, fish-like lips, narrow palpebral fissures, low-set ears, and a high palatal arch.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003e2.2 Palatopharyngeal malformations\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eEleven patients (21.6%) exhibited palatopharyngeal malformations, including throat puffing (2 patients), congenital laryngeal stridor (2 patients), congenital laryngeal chondrodysplasia (5 patients), and cleft palate (2 patients).\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003e2.3 Congenital heart disease\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eCongenital heart disease was identified in 39 patients (76.5%). Specific defects included patent ductus arteriosus (12 patients), ventricular septal defect (15 patients), atrial septal defect (16 patients), tetralogy of Fallot (7 patients), patent foramen ovale (14 patients), pulmonary stenosis (3 patients), and anomalous pulmonary venous drainage (2 patients). Cardiac surgery was performed in 22 patients, and two patients died after surgery.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003e2.4 Endocrine abnormalities\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eEndocrine abnormalities were documented in 23 patients (45.1%), including hypocalcemia (13 patients), hypoparathyroidism (10 patients), hypothyroidism (5 patients), and dwarfism (2 patients).\u003c/p\u003e\n\u003cp\u003e2.5 \u003cstrong\u003eInfection manifestations\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eAll patients experienced infections of varying severity or immoderate inflammation reaction (Figure 1). The most common manifestation included recurrent respiratory infections (9 patients, 17.6%), recurrent pneumonia (7 patients, 13.7%) and septicemia (4 patients, 7.8%). Less common infections involved maxillofacial infection, enteritis, and otitis media. Immoderate inflammation included Kawasaki disease, hemophagocytic syndrome. One patient P11 died of severe pneumonia and respiratory failure.\u003c/p\u003e\n\u003cp\u003eInfectious pathogens were detected in 43.1% (22/51) patients (Figure 2). Bacterial infection included Streptococcus viridans(5 patients) and Pseudomonas aeruginosa (6 patients), Staphylococcus aureus (5 patients), Escherichia coli (2 patients), Neisseria species(5 patients), and MRSA (1 patient). Viral pathogens included rhinovirus (2 patients), CMV (1 patient), and respiratory syncytial virus (2 patients). mNGS identified CMV, EBV and circovirus infection in P26 patient; another patient P22 had Candida albicans, Staphylococcus aureus and EBV infection.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003e2.6 Neurological manifestations and neuroimaging results\u0026nbsp;\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eNeurological abnormalities (Table 2) were observed in 30 patients (58.8%), with a median onset age of 3 months and median diagnosis age of 6.16 months. Epilepsy (9 patients) and hypocalcemic seizures (8 patients) were the most common neurological diagnoses. Other manifestations included dystonia (2 patients), ataxia (1 patient), viral encephalitis (1 patient), learning difficulties (3 patients), hearing impairment (1 patient), stereotyped movements (1 patient), tic disorder (1 patient), language development delay (2 patients), and emotional abnormalities (1 patient).\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eNeuroimaging was performed in 39 patients (76.5%), with abnormal findings in 35 (89.7%). Common observations included cerebral dysgenesis (7 patients), subdural bleeding (3 patients), scalp hematoma (1 patient), brain atrophy (1 patient), corpus callosum dysplasia (1 patient), intracerebral injury foci (1 patient), delayed myelination (1 patient), and cystic lesions (1 patient). Electroencephalogram abnormalities were identified in 10 patients (19.6%), including epileptiform discharges in 3 patients. Intelligence assessments, performed in 13 patients (25.5%), revealed subnormal scores in all cases.\u003c/p\u003e\n\u003cp\u003e2.7 \u003cstrong\u003eOther system manifestations\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eAdditional manifestations involved multiple organ systems, including dermatological (dermatitis, 4 patients), abdominal (umbilical hernia, 4 patients; abdominal hernia, congenital diaphragmatic distension, each 2 patients), musculoskeletal (butterfly-shaped thoracic vertebrae, 2 patients; distal rib enlargement, scoliosis, left equinovarus, each 1 patient), genitourinary (cryptorchidism, hypospadias, left hydronephrosis, each 1 patient), and other anomalies (triphalangeal thumb, left blepharoptosis, congenital bronchial malformation, esophageal stenosis, pharyngeal cyst, bronchostenosis, each 1 patient). Also noted were hematological abnormalities (thrombocytopenia and idiopathic thrombocytopenic purpura, each 1 patient), hearing loss (1 patient), and enuresis (1 patient).\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eTable 1 Demography and clinical general manifestations of 22q11.2 DS\u003c/p\u003e\n\u003cdiv align=\"center\"\u003e\n \u003ctable\u003e\n \u003ctbody\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ePatient\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eDiagnosis age (month)/Sex\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eGene Microdeletion\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eFacial Features\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eCongenital Heart Defects\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eSurgical methods\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ePalatopharyngeal Malformations\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eEndocrine Abnormalities\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003cp\u003eThymus volume\u003c/p\u003e\u0026nbsp;\u0026nbsp;\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eOther phenotypes\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP1\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e0.2/M\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003esmall mouth and nose ,crooked mouth to the left when crying\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ePDA,PFO\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003econgenital laryngeal stridor\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ehypocalcemia\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003cp\u003e\u0026nbsp; \u0026nbsp; \u0026nbsp; \u0026nbsp; N\u003c/p\u003e\u0026nbsp;\u0026nbsp;\u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eleft hydronephrosis, three sections of the thumb\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e19.9/M\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eVSD\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eventricular septal defect repair surgery\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e0.5/M\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ePDA\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ethroat-puff\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e\u0026nbsp; N\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP4\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e1.9/M\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eVSD,PFO\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eventricular septal defect repair surgery\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e\u0026nbsp; N\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e5.4/M\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ePA,VSD,ASD\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eventricular septal defect repair surgery+pulmonary valve stenosis dilation surgery\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e8.1/F\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ePA,VSD,ASD\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ecardiac catheterization\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e3.9/F\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eASD,VSD,PDA\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eventricular septal defect repair surgery\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ehypoparathyroidism\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e1.1/M\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003esmall jaw\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eASD,PFO\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ehypoparathyroidism\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003esmall\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP9\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e4.3/M\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ePFO\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003edermatitis, distal rib enlargement\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP10\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e4/M\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ePS,VSD\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eventricular septal defect repair surgery+pulmonary valve stenosis dilation surgery, died after surgery\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ehypocalcemia\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003cp\u003eabsence\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP11\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e4.2/M\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ePA,VSD\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eInvasive ventilator treatment, died of respiratory failure\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ehypoparathyroidism\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP12\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e10/F\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eTOF,PDA,PFO\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eright heart catheterization + central left and right ventricles and aortic root angiography\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003epalatoschisis\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ehypothyroidism\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003cp\u003esmall\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP13\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e1.1/M\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ePFO\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ehypocalcemia，hypoparathyroidism，hypothyroidism\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003cp\u003e\u0026nbsp; \u0026nbsp; \u0026nbsp; small\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP14\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e6.9/F\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eTOF,ASD,PFO\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eradical correction of tetralogy of fallot+foramen ovale closure + atrial septal repair + ductus arteriosus ligation\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ehypocalcemia\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP15\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e5.5/M\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eTOF\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eradical correction of tetralogy of fallot, dead after surgery\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP16\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e1.9/F\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eVSD,ASD,PDA\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eventricular septal defect repair surgery+atrial septal repair + arteriocatheter ligation\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP17\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e3.5/M\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eTOF,PDA,PFO\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eradical correction of tetralogy of fallot, died of cardiac surgery\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003econgenital diaphragmatic distension; \u0026nbsp; \u0026nbsp; butterfly-shaped thoracic vertebrae\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP18\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e2.6/M\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eASD,VSD,PDA\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eventricular septal defect repair + atrial septal repair + arteriocatheter ligation\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e\u0026nbsp;\u003c/p\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eleft blepharoptosis\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP19\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e1.8/F\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003esmall jaw\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ePDA,PFO\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP20\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e2/F\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e2.56MB\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003espherical nose tip，ocular hypertelorism\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eASD\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003econgenital laryngeal chondrodysplasia\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ehypocalcemia，hypoparathyroidism\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003esmall\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eumbilical hernia,\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP21\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e0.1/M\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ePDA\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ehypocalcemia\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003esmall\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003econgenital bronchial malformation\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP22\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e12/F\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eTBX1\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003esmall mouth and nose ,crooked mouth to the left when crying\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003esmall\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003edermatitis\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP23\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e0/F\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e3.2MB\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eocular hypertelorism, fish lip,small palpebral fissure\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eVSD,ASD\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ethroat-puff\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003esmall\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP24\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e17/M\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e2.5 MB\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003edwarfism\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP25\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e0.03/M\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e2.18MB\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eASD\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003esmall\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eesophageal stenosis\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP26\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e2/F\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eTBX1\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eASD\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003econgenital laryngeal chondrodysplasia\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ehypothyroidism，hypocalcemia\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003esmall\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eumbilical hernia\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP27\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e0/M\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003esmall jaw, ocular hypertelorism, low-set ears\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003econgenital laryngeal chondrodysplasia\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ebronchostenosis\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP28\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e3/M\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eASD,PFO\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eresection of oropharyngeal lesions + laryngoplasty\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003econgenital laryngeal chondrodysplasia\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003epharyngeal cyst, umbilical hernia,hearing loss\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP29\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e9/M\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eunusual facies\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eVSD,APVD,PFO\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eventricular septal defect repair surgery\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003econgenital laryngeal chondrodysplasia\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP30\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e36/M\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ehypoparathyroidism\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP31\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e36/F\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003elow-set ears, fish lip, spherical nose tip\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP32\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e18/F\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e7.085MB\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003emicrocephaly\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ePFO\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP33\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e23/F\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e2.5MB\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP34\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e4/F\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e2.6MB\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003esmall\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eumbilical hernia\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP35\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e0.07/M\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e2.5MB\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eocular hypertelorism, collapsed nose\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eASD,PDA\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ehypothyroidism\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003esmall\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ecryptorchidism, hypospadias,umbilical hernia, oblique inguinal hernia\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP36\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e1/F\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e3.15MB\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003esmall jaw, fish lip\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ePFO\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003econgenital laryngeal stridor\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ehypocalcemia\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003edermatitis\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP37\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e0/M\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eVSD\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eventricular septal defect repair surgery\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ehypocalcemia，hypoparathyroidism\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003edermatitis\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP38\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e56/F\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eocular hypertelorism, low-set ears, high palatal arch\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ePDA\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP39\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e0.4/M\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ehypoparathyroidism，hypocalcemia\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP40\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e1.3/F\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003esmall mouth and nose ,crooked mouth to the left when crying\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003epalatoschisis\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ehypothyroidism\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eabdominal hernia\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP41\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e4/F\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eASD\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ehypocalcemia，hypoparathyroidism\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ethrombocytopenia\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP42\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e59/M\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003edwarfism\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eidiopathic thrombocytopenic purpura\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP43\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e3/M\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003efish lip, ocular hypertelorism, high palatal arch\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eVSD,ASD,PDA\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003etonsillectomy combined with adenectomy\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ehypoparathyroidism\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eleft horseshoe foot\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP44\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e4/M\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eTOF,PFO\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eradical correction of tetralogy of fallot\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003econgenital right diaphragmatic distension;\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP45\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e7/M\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eTOF\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eradical correction of tetralogy of fallot, cerebral palsy and quadriplegia after surgery\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP46\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e89/F\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eEnuresis\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP47\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e16/M\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eASD,APVD\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eatrial septal patch repair + anomalous pulmonary vein drainage surgery\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ehypocalcemia, dwarfism\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP48\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e12/M\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eTOF\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003etetralogy of Fallot combined with outflow tract angioplasty + foramen ovale closure\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP49\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e99/M\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eVSD\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eventricular septal defect repair surgery\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ebutterfly-shaped thoracic vertebrae, scoliosis\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP50\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e21/M\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ehigh palatal arch\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ehypocalcemia\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP51\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e21/F\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eVSD, ASD\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eventricular septal defect repair surgery\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003c/tbody\u003e\n \u003c/table\u003e\n\u003c/div\u003e\n\u003cp\u003eNote:F-Female; M-Male; N-Normal; PDA-Patent Ductus Arteriosus; VSD-Ventricular Septal Defect; ASD-Atrial Septal Defect; TOF-Tetralogy of Fallot; PFO-Patent Foramen Ovale; PS-Pulmonary Stenosis; PA-Pulmonary Atresia; APVD-Anomalous Pulmonary Venous Drainage; ITP-idiopathic thrombocytopenic purpura; N-Normal; - Unavailable data\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eTable 2 Neurological manifestations and neuroimaging results of 22q11.2DS\u003c/p\u003e\n\u003cdiv align=\"center\"\u003e\n \u003ctable style=\"width: 100%\"\u003e\n \u003ctbody\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ePatient\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eNeuro-\u003c/p\u003e\n \u003cp\u003eonset Age (month)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eDiagnosis Age (month)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eDelayed Development\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eIntellectual Disability\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eNeurological Manifestation\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eMRI/CT\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eElectroencephalogram\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eIntelligence Assessment\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP1\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e6.16\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003esubdural bleeding, scalp hematoma\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eLess gyri, occipital subdural bleeding, scalp hematoma\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003enormal\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eepilepsy, dystonia\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003enormal\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e12\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e15\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003esubdural bleeding\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eCT: subdural bleeding\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003enormal\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e4.4\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e4.4\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eepilepsy;subdural bleeding\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eCT: subdural bleeding\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eabnormal\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP9\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e18\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003edystonia\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ethin cerebral cortex, less white matter, thin corpus callosum, brain dysplasia\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003enormal\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP11\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eunknown\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eunknown\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003elow calcium convulsions\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003enormal\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ebasic electrical activity slower and the voltage is lower\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP12\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e9\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e17\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003elow calcium convulsions；epilepsy\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ebrain sulci widened; extracerebral space widened and full lateral ventricles\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003esharp waves and sharp slow wave\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP13\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e1.4\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e1.4\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003elow calcium convulsions, epilepsy\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eCT: bilateral temporal pole extracerebral space widened\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ebackground electrical activity slow, front sharp wave; the voltage is lower\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP20\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e18\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e18\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eviral encephalitis\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003efull ventricles and extracerebral Spaces widened\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ephysiological waves and lots of \u0026beta; waves\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP21\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e0.1\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e10\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003elow calcium convulsions, ataxia\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eleft cerebellar extracerebral space widened\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eborderline infantile EEG, slightly slower background, bilateral OIRDA\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eGesell: gross movement 54, fine movement 44, adaptive behavior 46, language 49, Personal - social \u0026zwnj; 54\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP22\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e9\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e17\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eepilepsy\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ebilateral basal ganglia and thalamus symmetrical signal shadow, brain dysplasia\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ehigh amplitude sharp wave and sharp slow wave\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eDST: gross movement 12/14, social adaptation 10/12, intelligence 8/19\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP23\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ecavum septum pellucidum widening\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003enormal\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eDST:DQ84，MI92\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP24\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e17\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e17\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003enormal\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e6-7Hz normal wave and some \u0026amp;waves\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eDST:DQ＜50，MI＜50\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP25\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003enormal\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003enormal\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eASQ：communication area is close to the threshold value, and the gross action area is lower than the threshold value\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP26\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e17\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e17\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eepilepsy\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eplump brain ventricles\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP28\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ehearing impairment\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP32\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e21\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e24\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eDST: DQ53, MI58\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP33\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e10\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e23\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP35\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003emonotonous whole body movement\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003emyelination lags behind full-term infants\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP38\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e12\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e15\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eepilepsy\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eDST: DQ＜49, MI＜56\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP39\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e10\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e15\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003elow calcium convulsions\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eDST: DQ＜48, MI＜50\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP41\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e0.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e1.6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003elow calcium convulsions\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eGesell: gross movement 42, fine movement 63, adaptive behavior 52, language 52, personal - social \u0026zwnj; 42\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP42\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e139\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003elow calcium convulsions\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP43\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003elearning difficulty\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eGesell: gross movement 63, fine movement 42, adaptive behavior 29, language 39, personal - social \u0026zwnj; 49\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP45\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e0.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eepilepsy\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP46\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e84\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e89\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003elearning difficulty\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eWechsler intelligence scale IQ59\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP47\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e108\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eepilepsy, tic disorder\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ebilateral lateral ventricle dilation\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ea sharp slow-wave discharge stove in the Rolandic area on the left\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eGesell: gross movement 56, fine movement 56, adaptive behavior 64, language 56, personal - social \u0026zwnj; 9\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP48\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e19\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e19\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003elanguage development delay\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eDST:MI76, DQ72\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP49\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e24\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e111\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003elanguage development delay,learning difficulty,emotional abnormalities\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eplump lateral ventricle , \u0026nbsp;small cystic foci\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ebasic electrical activities in the posterior parts of both hemispheres are 8-9HZ rhythms and some \u0026delta;, waves\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP50\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e0\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e21\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e+\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003elow calcium convulsions\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003c/tbody\u003e\n \u003c/table\u003e\n\u003c/div\u003e\n\u003cp\u003eNote: MRI: Brain magnetic resonance imaging; CT: brain computed tomography plain scan ; + Positive; - Unavailable data\u003c/p\u003e\n\u003cp\u003e3. \u003cstrong\u003eImmune\u0026nbsp;\u003c/strong\u003e\u003cstrong\u003efunction characteristics\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe serum immunoglobulin level were available for 70.6%（36/51）patients (Table 3). Approximately two-third of the patients showed abnormal level. Elevated IgE levels (range: 172.41\u0026ndash;6980 KU/L; reference \u0026lt;100 KU/L) were observed in 6 patients. Immunoglobulin abnormalities included elevated IgG and IgM (11 and 7 patients, respectively), decreased IgM and IgG (7 and 3 patients, respectively), and elevated or decreased IgA (8 and 3 patients, respectively).\u003c/p\u003e\n\u003cp\u003eLymphocyte subset analysis were available for 78.1%（40/51）patients (Table 4), which all had varying degrees of abnormalities. All the 40 patients were partial Digeorge. The results revealed normal total T-cell counts in 10 patients and reduced total T-cell counts in 30 patients. The others included decreased CD8⁺ and CD4⁺ lymphocytes cell counts in 27 and 28 patients, respectively. Total B-cell and NK-cell counts were decreased in 9 and 11 patients, respectively. Subset analysis in four patients showed increased CD4⁺ terminal T cells in three patients. Patient 34 （P34） exhibited elevated double-negative T cells with reduced memory B cells and na\u0026iuml;ve T cells. Two patients had markedly reduced \u0026gamma;\u0026delta; T-cell counts.\u003c/p\u003e\n\u003cp\u003eAbnormal thymic volume was observed in 12 patients (23.5%), including one case of thymic aplasia. All patients received symptomatic anti-infective therapy, and immunomodulatory agents (thymopentin or IVIG) were administered to 20 patients (39.2%). After treatment with thymopentin or IVIG, the levels of reduced total T cells all had recovered to varying degrees.\u003c/p\u003e\n\u003cp\u003eTable 3 Serum immunoglobulin level and lymphocyte subset detection\u0026nbsp;\u003c/p\u003e\n\u003cdiv align=\"center\"\u003e\n \u003ctable style=\"width: 100%\"\u003e\n \u003ctbody\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ePatient\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eImmunophenotypic Age(month)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eCD3+\u003c/p\u003e\n \u003cp\u003e(cell/ul)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eCD3+\u003c/p\u003e\n \u003cp\u003e(%)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003eCD3+CD4+\u003c/p\u003e\n \u003cp\u003e(cell/ul)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003eCD3+CD4+\u003c/p\u003e\n \u003cp\u003e(%)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eCD3+CD8+\u003c/p\u003e\n \u003cp\u003e(cell/ul)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eCD3+CD8+\u003c/p\u003e\n \u003cp\u003e(%)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eCD19+\u003c/p\u003e\n \u003cp\u003e(cell/ul)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eCD19+\u003c/p\u003e\n \u003cp\u003e(%)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eCD16+CD56+(cell/ul)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eCD16+CD56+(%)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eIgG\u003c/p\u003e\n \u003cp\u003e(g/L)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eIgM\u003c/p\u003e\n \u003cp\u003e(g/L)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eIgA\u003c/p\u003e\n \u003cp\u003e(g/L)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eTotal IgE\u003c/p\u003e\n \u003cp\u003e(KU/L)\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP1\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP4\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e2241\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e41.80%\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e1513\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e28.1%\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e699\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e13%\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e2833\u0026uarr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e52.6%\u0026uarr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e277\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e5.2%\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e2635\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e56.20%\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e2087\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e44.50%\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e492\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e10.5%\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e1494\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e31.80%\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e518\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e11.07%\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e684\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e22.8%\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n 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nowrap=\"\"\u003e\n \u003cp\u003e20.4%\u0026uarr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e7.47\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e1.29\u0026uarr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e0.55\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e77.2\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e327\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e32.7%\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e253\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e25.3%\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n 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nowrap=\"\"\u003e\n \u003cp\u003e45%\u0026uarr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e188\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e10%\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e6.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e1.37\u0026uarr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e0.43\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e\u0026lt;2\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP13\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e1\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e529\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e24%\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n 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nowrap=\"\"\u003e\n \u003cp\u003eP17\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e\u0026nbsp; \u0026nbsp;\u003c/p\u003e\n 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nowrap=\"\"\u003e\n \u003cp\u003e913.8\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e35.91%\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e716.31\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e28.15%\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e177.85\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e6.99%\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e689.85\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e27.11%\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e920\u0026uarr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e36.15%\u0026uarr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e7.3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n 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nowrap=\"\"\u003e\n \u003cp\u003e0.1\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e9.22\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP28\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e9\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e971.2\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e29.51%\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e725.28\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e22.07%\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e226.44\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e6.88%\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e1700.79\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n 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nowrap=\"\"\u003e\n \u003cp\u003e971.3\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e30.93%\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e438.65\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e13.97%\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e511.12\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e16.27%\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e997.89\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e31.77%\u0026uarr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e1131.76\u0026uarr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e36.03%\u0026uarr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e9.6\u0026uarr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e1.42\u0026uarr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e0.73\u0026uarr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e48.4\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP42\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n 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\u003cp\u003eP44\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e36\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e2866.38\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e58.44%\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e1580.37\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e32.22%\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e1106.47\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e22.56%\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e1453.02\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e29.62%\u0026uarr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e505.22\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e10.30%\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e44.9\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP45\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP46\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e84\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e1859.09\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e59.02%\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e1111.6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e35.29%\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e615.48\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e19.54%\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e289.86\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e9.2%\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e971.90\u0026uarr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e30.85%\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e15.22\u0026uarr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e0.83\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e1.21\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e381.2\u0026uarr;\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP47\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e48\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e1367.9\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e53.35%\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e827.58\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e32.28%\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e434.48\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e16.95%\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e935.17\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e36.48%\u0026uarr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e221.67\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e8.65%\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e6.36\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e1.48\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e0.66\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e39.4\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP48\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e12\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e1528.9\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e54.67%\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e795.12\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e28.43%\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e642.05\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e22.96%\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e815.57\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e29.16%\u0026uarr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e418.88\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e14.98%\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e5.81\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e0.58\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e0.28\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e26.7\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP49\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e92\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e1230.8\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e60.71%\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e604.56\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e29.82%\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e475.97\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e23.48%\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e532.75\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e26.28%\u0026uarr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e228.80\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e11.29%\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e17.6\u0026uarr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e1.52\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e0.21\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e12.79\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP50\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e30\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e1091.9\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e48.77%\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e602.55\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e26.92%\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e319.8\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e14.29%\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e811.18\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e36.24%\u0026uarr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e290.29\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e12.97%\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e8.6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e0.88\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e1.65\u0026uarr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e78.41\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP51\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003c/tbody\u003e\n \u003c/table\u003e\n\u003c/div\u003e\n\u003cp\u003eNote: The above immunology manifestations are the patients\u0026rsquo; first check to the number of peripheral blood lymphocytes. Lymphocyte abnormal value among different age according to Reference Values for Peripheral Blood Lymphocyte Subsets of Healthy Children in China\u003csup\u003e[9]\u003c/sup\u003e. The reference value of IgG, IgA, IgM and IgE list according to age respectively. 1-3m 2.75\u0026ndash;7.50 g/L, 0.05\u0026ndash;0.60 g/L, 0.10-0.70 g/L and \u0026lt; 100 KU/L; 4-6m 3.7\u0026ndash;8.3g/L, 0.14\u0026ndash;0.5 g/L, 0.33-1.25 g/L and \u0026lt; 100KU/L;7-11m 3.5\u0026ndash;8.9 g/L, 0.06-0.54 g/L, 0.36-1.2g/L and \u0026lt; 100 KU/L;12-36m 5.52\u0026ndash;11.46 g/L, 0.06-0.74 g/L, 0.6-2.12 g/L and \u0026lt; 100 KU/L.- Unavailable data\u003c/p\u003e\n\u003cp\u003eTable 4 Immunology manifestations of precise classification of T and B lymphocytes\u003c/p\u003e\n\u003cdiv align=\"center\"\u003e\n \u003ctable style=\"width: 100%\"\u003e\n \u003ctbody\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP25（%）\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP26（%）\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP34（%）\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP35（%）\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eTotal T cells\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e51.09\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e37.03\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e56.33\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e30.99\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eCD4+ cells\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e21.18\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e13.97\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e38.59\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e21.14\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eCD8+ cells\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e29.16\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e18.59\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e17.7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e8.34\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eDouble-negative T cells\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e2.02\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e13.06\u0026uarr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e6.89\u0026uarr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e4.91\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eTCRa\u0026beta;+ double-negative T cells\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e0.51\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e0.71\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e0.04\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e0.69\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eTCR\u0026gamma;\u0026delta;+T cells\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e1.77\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e6.37\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e7.86\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e1.01\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eCD4+ naive T cells\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e79.94\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e62.71\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e20.81\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e60.13\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eCD4+ Central memory T cells\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e13.35\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e30.2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e26.19\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e29.32\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eCD4+ effector memory T cells\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e2.05\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e4.98\u0026uarr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e51.25\u0026uarr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e9.24\u0026uarr;\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eCD4+ terminal T cells\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e4.66\u0026uarr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e2.11\u0026uarr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e1.74\u0026uarr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e1.31\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eCD8+ naiveT cells\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e41.86\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e53.25\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e12.98\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e84.52\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eCD8+ Central memory T cells\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e3.51\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e19.95\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e19.38\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e11.11\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eCD8+ effector memory T cells\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e3.75\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e2.99\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e60.21\u0026uarr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e3.6\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eCD8+ end-stage T cells\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e50.88\u0026uarr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e23.81\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e7.44\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e0.77\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eCD19+B cells\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e27.84\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e27.59\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e27.54\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e31.7\u0026uarr;\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eInitial B cells\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e88.64\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e85.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e92.95\u0026uarr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e96.56\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eB cells in the marginal zone\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e2.59\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e6.42\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e1.51\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e2.14\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eMemory B cells\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e5.28\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e4.46\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e1.75\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e0.24\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eTransitional B cells\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e15.94\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e9.38\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e1.95\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e24.18\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ePlasmacytocyte\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e3.69\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e0.74\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e0.04\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e0.06\u0026darr;\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003c/tbody\u003e\n \u003c/table\u003e\n\u003c/div\u003e\n\u003cp\u003eNote: The above immunology manifestations are the patients\u0026rsquo;first check to the number of peripheral blood lymphocytes. Lymphocyte abnormal value among different age according to Reference Values for Peripheral Blood Lymphocyte Subsets of Healthy Children in China\u003csup\u003e[9]\u003c/sup\u003e.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003e3. Follow-up and outcomes\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eFollow-up data (Table 5) were available for 45 patients (median age: 13.5 years; range: 1.7\u0026ndash;17 years). Three patients were lost in follow-up. Persistent occurrence of clinical symptoms were found in 12 patients (26.7%). The most common was recurrent respiratory tract infections (9 patients). Other ongoing issues included recurrent allergies, eczema, recurrent rhinitis, and thrombocytopenia (each 1 patient). Immunomodulatory therapy was continued in 7 patients (15.6%). Endocrine abnormalities persisted in 11 patients, including hypocalcemia (3 patients) and hypothyroidism (1 patient),short stature(8 patients).\u003c/p\u003e\n\u003cp\u003eNeurological impairments were identified in 32 patients (71.1%), with learning difficulties being the most common (20 patients). Other prevalent issues included language development delay (10 patients) and cognitive and developmental delay (3 patients). Additional manifestations included hearing impairment (1 patient), cerebral palsy (1 patient), quadriplegia (1 patient), emotional abnormalities (2 patient), seizures (1 patient), and attention deficit hyperactivity disorder (2 patients).\u003c/p\u003e\n\u003cp\u003eTable 5 Follow-up of results of 22q11.2DS\u003c/p\u003e\n\u003cdiv align=\"center\"\u003e\n \u003ctable style=\"width: 100%\"\u003e\n \u003ctbody\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ePatient\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eCurrent age(year)\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eImmunodeficiency manifestations\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eNeurological manifestations\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eEndocrine manifestations\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eCurrent treatment\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP1\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e\u0026nbsp;15\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003elearning difficulty\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP2\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e\u0026nbsp;17\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP3\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e\u0026nbsp;15\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP4\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e12\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003elearning difficulty\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e12\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e13\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e12\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003elearning difficulty\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ehypocalcemia, short stature\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e14\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP9\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003elost\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP12\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e14\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ecognitive and development delay\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP13\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e14\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003elanguage development delay, learning difficulty\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ehypocalcemia\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP14\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e13\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003elearning difficulty\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP15\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e12\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003elearning difficulty\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP16\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e12\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP18\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e12\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003elanguage development delay, learning difficulty\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP19\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e13\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP20\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e2.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003erecurrent respiratory tract infection\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003elanguage development delay\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eshort stature\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ethymopentin\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP21\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e13\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003elearning difficulty, seizures\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ehypocalcemia\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP22\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003erecurrent respiratory tract infection\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003elanguage development delay\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ehypothyroidism\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ethymopentin\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP23\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003elanguage development delay\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP24\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003erepeated allergies, eczema\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003elanguage development delay, ADHD\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP25\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e1.7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003elanguage development delay\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eshort stature\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP26\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003elost\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP27\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003erecurrent respiratory tract infection\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003elanguage development delay\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eshort stature\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ethymopentin\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP28\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e9\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003erecurrent respiratory tract infection\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eADHD\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP29\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003erecurrent respiratory tract infection\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eshort stature\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP30\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003erecurrent respiratory tract infection\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ethymopentin\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP31\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e10\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003erecurrent rhinitis\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003elearning difficulty, emotional abnormalities\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP32\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003elearning difficulty\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP33\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e9\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ethymopentin, immunoglobulin\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP34\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e3.5\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003erecurrent respiratory tract infection\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eshort stature\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ethymopentin\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP35\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003elost\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP36\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e4\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ecognitive and developmental delay\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP37\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP38\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e11\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003erecurrent respiratory tract infection\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003elearning difficulty\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ethymopentin\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP39\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e9\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003elearning difficulty, cognitive and developmental delay\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP40\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e6\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP41\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e11\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ethrombocytopenia\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003elearning difficulty\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eshort stature\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP42\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e12\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003elearning difficulty, emotional abnormalities\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP43\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e10.7\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003elearning difficulty,\u0026nbsp;\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eshort stature\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP44\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e13\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003elearning difficulty\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP45\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e13\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003ecerebral palsy, quadriplegia\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP46\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e17\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003elearning difficulty\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP47\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e11\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003elanguage development delay, learning difficulty\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP48\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e9\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP49\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e14\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP50\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e8\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003erecurrent respiratory tract infection\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003elearning difficulty\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003ctr\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eP51\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e12\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003elearning difficulty, language development delay, poor hearing\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003eN\u003c/p\u003e\n \u003c/td\u003e\n \u003ctd nowrap=\"\"\u003e\n \u003cp\u003e-\u003c/p\u003e\n \u003c/td\u003e\n \u003c/tr\u003e\n \u003c/tbody\u003e\n \u003c/table\u003e\n\u003c/div\u003e\n\u003cp\u003eNote: ADHD- Attention deficit hyperactivity disorder; N-Normal; - Unavailable data\u003c/p\u003e"},{"header":"Discussion","content":"\u003cp\u003e22q11.2 deletion syndrome is a multisystem disorder caused by a heterozygous 3 Mb microdeletion within the 22q11.2 chromosomal region\u003csup\u003e[\u003cspan citationid=\"CR15\" class=\"CitationRef\"\u003e15\u003c/span\u003e]\u003c/sup\u003e. However, hemizygosity of the affected genes does not fully account for the considerable phenotypic variability observed among patients, additional mutations in genes located outside the deleted region, leading to \u0026ldquo;dual diagnosis\u0026rdquo;, have been described in 1% of patients. Besides, the genetic and epigenetic mechanisms implicated in the pathogenesis of the clinical manifestations of 22q11.2 DS\u003csup\u003e[\u003cspan citationid=\"CR16\" class=\"CitationRef\"\u003e16\u003c/span\u003e]\u003c/sup\u003e.\u003c/p\u003e \u003cp\u003eOne Chinese cohort found that all 43 of their study participants with 22q11.2 DS had typical facial findings consisting of a vertically long face, narrow palpebral fissures, flesh nose with a broad nasal root, flattened malar region, retrognathia, and overfolded helix\u003csup\u003e[\u003cspan citationid=\"CR17\" class=\"CitationRef\"\u003e17\u003c/span\u003e]\u003c/sup\u003e. In our cohort, facial dysmorphism was observed in 31.4% of patients, the most prevalent features in our study included asymmetric crying facies and small jaw. We speculated that this might be due to in our cohort aged 0 to 99 months resulting the inconsistent facial features. Palatopharyngeal anomalies were identified in 21.6% of patients, which is notably lower than the 67% reported in the literature\u003csup\u003e[\u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e18\u003c/span\u003e]\u003c/sup\u003e. Another Literature indicate that palatopharyngeal abnormalities are present in 49%-69% of 22q11.2 patients\u003csup\u003e[\u003cspan citationid=\"CR19\" class=\"CitationRef\"\u003e19\u003c/span\u003e]\u003c/sup\u003e. This discrepancy may reflect ethnic differences, variability in diagnostic scrutiny, or the influence of local genetic backgrounds. Patients with velopharyngeal insufficiency, which may cause serious disorders in functional speech, with poor intelligibility, a glottal stop with hypernasality and a pharyngeal fricative, and dropping and weakening of consonants\u003csup\u003e[\u003cspan citationid=\"CR20\" class=\"CitationRef\"\u003e20\u003c/span\u003e]\u003c/sup\u003e. Therefore, specialized therapy and long-term clinical follow-up are necessary to velopharyngeal disfunction with 22q11.2DS.\u003c/p\u003e \u003cp\u003eThe most frequent endocrine disorders associated with DGS/VCFS are short stature, hypocalcemia, thymic related immunodeficiency, and, less frequently, autoimmune and thyroid disorders\u003csup\u003e[\u003cspan citationid=\"CR21\" class=\"CitationRef\"\u003e21\u003c/span\u003e]\u003c/sup\u003e. Another literature reported that Deletions of 22ql1.2 are associated with a number of endocrine disorders, most commonly hypoparathyroidism, hypothyroidism and growth hormone deficiency\u003csup\u003e[\u003cspan citationid=\"CR22\" class=\"CitationRef\"\u003e22\u003c/span\u003e]\u003c/sup\u003e. In our cohort, hypoparathyroidism ,hypocalcemia hypothyroidism and short stature were the most common, which were consistent with literature. As for treatment, five patients exhibited hypothyroidism requiring lifelong thyroxine replacement, and two presented with short stature associated with growth hormone deficiency, treating with growth hormone regularly. These findings reinforce the need for systematic monitoring of calcium-parathyroid axis, thyroid function, and growth parameters in this population to enable early intervention and prevent complications.\u003c/p\u003e \u003cp\u003eApproximately 60\u0026ndash;80% of patients have a cardiac malformation most commonly including a subset of conotruncal defects (tetralogy of Fallot, truncus arteriosus, interrupted aortic arch type B), conoventricular and/or atrial septal defects, and aortic arch anomalies\u003csup\u003e[\u003cspan citationid=\"CR23\" class=\"CitationRef\"\u003e23\u003c/span\u003e]\u003c/sup\u003e. Congenital heart disease was present in 76.5% of our patients, aligning closely with the above reported rates. Ventricular and atrial septal defects were the most common cardiac anomalies in our study, consistent with established literature. It is noteworthy that children with 22q11.2 DS face elevated risks of postoperative complications following cardiac surgery, including infections and renal impairment\u003csup\u003e[\u003cspan citationid=\"CR24\" class=\"CitationRef\"\u003e24\u003c/span\u003e]\u003c/sup\u003e. These findings underscore the necessity of early genetic diagnosis to inform surgical planning and perioperative management.\u003c/p\u003e \u003cp\u003eComplete absence of thymus, though very rare and affecting less than 1% of patients with 22q11.2DS, is associated with a form of severe combined immunodeficiency (SCID). The degree of immunodeficiency can present differently depending on the extent of thymic hypoplasia\u003csup\u003e[\u003cspan citationid=\"CR25\" class=\"CitationRef\"\u003e25\u003c/span\u003e]\u003c/sup\u003e. The immune deficiency also affects the humoral function of the immune system. This is thought to be the result of aberrant T cell help rather than B cell exhaustion evidenced by normal bone marrow B cell output as measured by kappa-deleting recombination excision circles (KRECs)\u003csup\u003e[\u003cspan citationid=\"CR26\" class=\"CitationRef\"\u003e26\u003c/span\u003e]\u003c/sup\u003e. Besides, In terms of the humoral immune deficiency, there may be low gamma globulinemia, poor specific antibody response, and changes in B cell maturation. The fundamental cause of abnormal B cell maturation is likely to be impaired T cell assistance, rather than abnormal B cell proliferation or exhaustion\u003csup\u003e[\u003cspan citationid=\"CR27\" class=\"CitationRef\"\u003e27\u003c/span\u003e]\u003c/sup\u003e. Previous reports found that \u0026gt;\u0026thinsp;30% of patients had an antibody defect, which could contribute to an increased risk of recurrent infections and up to 6% of 22q11.2DS have low IgG levels (defined as \u0026lt;\u0026thinsp;500 mg/dL) after 3 years of age\u003csup\u003e[\u003cspan citationid=\"CR28\" class=\"CitationRef\"\u003e28\u003c/span\u003e]\u003c/sup\u003e. Selective IgA deficiency is present in up to 13% of 22q11.2DS\u003csup\u003e[\u003cspan citationid=\"CR29\" class=\"CitationRef\"\u003e29\u003c/span\u003e]\u003c/sup\u003e. Selective IgM deficiency is less common but has also been reported in association with 22q11.2DS\u003csup\u003e[\u003cspan citationid=\"CR30\" class=\"CitationRef\"\u003e30\u003c/span\u003e, \u003cspan citationid=\"CR31\" class=\"CitationRef\"\u003e31\u003c/span\u003e]\u003c/sup\u003e.The immunological profile of our cohort was characterized by T-cell deficiency and B- cell deficiency in a substantial number of patients, correlating with the high prevalence of thymic hypoplasia/aplasia (23.5%). Besides, 40 patients were all Partial Digeorge by immunophenotyping characteristics. The possible reason was that the incidence rate of complete Digeorge was low and our sample size was small. The proportion of patients with decreased lgG level or decreased lgM level or decreased lgA level was8.3%, 19.4%, 8.3% respectively. In a cohort, 63 of the 74 patients (85%) had a history of recurrent infections. Recurrent respiratory tract infections were reported in 58 patients (78%), more than ear infections in 31 (42%) and pneumonias in 16 patients (22%), respectively\u003csup\u003e[\u003cspan citationid=\"CR32\" class=\"CitationRef\"\u003e32\u003c/span\u003e]\u003c/sup\u003e. Notably, patients in our cohort occurred with recurrent respiratory infections (17.6%), recurrent pneumonia (13.7%) and septicemia (7.8%), which was lower than that reported. We speculated that the widespread use of immunomodulatory therapies (thymopentin or IVIG) in our cohort (39.2%) may have contributed to this reduced infection rate. McDonald-McGinn,etal reported that the majority of patients with the deletion are modestly immunocompromised and do not develop opportunistic infections. Viral infections can be prolonged, and abnormal palatal anatomy may lead to compromised drainage and an increased susceptibility to upper airway bacterial infections. Approximately one-quarter to one-third of the patients had either recurrent sinusitis or otitis media, and 4%-7% had recurrent lower airway infections\u003csup\u003e[\u003cspan citationid=\"CR33\" class=\"CitationRef\"\u003e33\u003c/span\u003e]\u003c/sup\u003e. In terms of our cohort, the spectrum of opportunistic pathogenic highlighted a predominance of Streptococcus viridans, Pseudomonas aeruginosa, and Neisseria species. As for virus, CMV and respiratory syncytial virus were the most common, emphasizing the need for vigilant microbiological surveillance in these immunocompromised patients.\u003c/p\u003e \u003cp\u003eNeurological and neurodevelopmental abnormalities represented a major clinical concern with affecting 58.8% of patients at initial assessment and increasing to 71.1% during follow-up in our study. Patients with 22q11.2 DS are at elevated risk for a spectrum of neurological manifestations, including epilepsy, neuropsychiatric disorders, and structural brain abnormalities\u003csup\u003e[\u003cspan citationid=\"CR34\" class=\"CitationRef\"\u003e34\u003c/span\u003e]\u003c/sup\u003e. One study showed that acute symptomatic seizures such as hypoglycemia and epilepsy are more common in children with 22q11.2DS relative to the general pediatric population\u003csup\u003e[\u003cspan citationid=\"CR35\" class=\"CitationRef\"\u003e35\u003c/span\u003e, \u003cspan citationid=\"CR36\" class=\"CitationRef\"\u003e36\u003c/span\u003e]\u003c/sup\u003e. In regard to unprovoked seizures, the percentage of patients meeting the criteria of epilepsy varies from 4%\u003csup\u003e[\u003cspan citationid=\"CR37\" class=\"CitationRef\"\u003e37\u003c/span\u003e]\u003c/sup\u003eto 15.2%\u003csup\u003e[\u003cspan citationid=\"CR36\" class=\"CitationRef\"\u003e36\u003c/span\u003e]\u003c/sup\u003e, depending on the study. In our study, 30% of patients were diagnosed with epilepsy, while hypocalcemic seizures occurred in 26.7%. The relatively high prevalence of epilepsy and hypocalcemic seizures in our cohort may reflect earlier detection and diagnosis in pediatric settings. These findings underscored the necessity of longitudinal neurological and developmental follow-up to monitor disease progression and implement timely interventions. The reported patterns of neuroimaging abnormalities in 22q11.2DS included reduced surface area, cortical thickening with regional thinning, and subcortical changes\u003csup\u003e[\u003cspan citationid=\"CR38\" class=\"CitationRef\"\u003e38\u003c/span\u003e]\u003c/sup\u003e. Mouse models indicate decreased neural progenitors in layers 2/3 may underlie aberrant connectivity\u003csup\u003e[\u003cspan citationid=\"CR39\" class=\"CitationRef\"\u003e39\u003c/span\u003e]\u003c/sup\u003e. Our results found that cerebral dysgenesis and subdural hemorrhage were the most common, further supporting structure-function correlations, which was basically consistent with literature.\u003c/p\u003e \u003cp\u003e22q11.2DS is a multisystem genetic disorder necessitating lifelong multidisciplinary care, particularly during the transition from pediatric to adult services\u003csup\u003e[\u003cspan citationid=\"CR4\" class=\"CitationRef\"\u003e4\u003c/span\u003e]\u003c/sup\u003e. Longitudinal follow-up is crucial for early detection of comorbidities and quality-of-life improvement. Our cohort exhibited recurrent respiratory infections in 9 patients and ongoing immunomodulatory therapy in 7 patients, which was inconsistent with one literature repoted that only 40% of patients aged\u0026thinsp;\u0026gt;\u0026thinsp;9 years with the deletion were thought to be as healthy as others their age\u003csup\u003e[\u003cspan citationid=\"CR33\" class=\"CitationRef\"\u003e33\u003c/span\u003e]\u003c/sup\u003e. Furthermore, we found that neurodevelopmental and psychiatric manifestations progressed over time, affecting 71.1% of patients during follow-up, predominantly learning difficulties, language development delay and cognitive development delay. These observations align with established evidence of cognitive inflexibility and social cognition deficits in adulthood\u003csup\u003e[\u003cspan citationid=\"CR40\" class=\"CitationRef\"\u003e40\u003c/span\u003e][\u003cspan citationid=\"CR41\" class=\"CitationRef\"\u003e41\u003c/span\u003e]\u003c/sup\u003e. Consequently, long-term care strategies should emphasize regular monitoring and early intervention for both immunological and neuropsychiatric sequelae.\u003c/p\u003e \u003cp\u003eThis study has several limitations, including its retrospective design and modest sample size, which may limit the generalizability of the findings. In addition, the single-center nature of the study may introduce selection bias. Nevertheless, our findings first provided valuable insights into the phenotypic expression of 22q11.2 DS in a Chinese pediatric cohort.\u003c/p\u003e \u003cp\u003eIn conclusion, our results affirm that T-cell immunodeficiency and neurodevelopmental abnormalities are core features of 22q11.2 DS critically influencing long-term outcomes. Early genetic testing should be considered in children presenting with congenital heart disease, unexplained hypocalcemia, seizures, or recurrent infections. Comprehensive and prolonged follow-up, involving immunology, neurology, endocrinology, and mental health services, is essential to optimize quality of life and functional outcomes in these patients.\u003c/p\u003e"},{"header":"Declarations","content":"\u003cp\u003ePublishing Units: Department of Pediatric Immunology at Fudan Children\u0026rsquo;s hospital\u003c/p\u003e\n\u003cp\u003eEthics: Fudan University Pediatric Ethics Review [2025] 198, Study on the Association between 22q11.2DS Immunodeficiency and Neurodevelopmental Abnormalities, which is in accordance with the \u0026ldquo;Declaration of Helsinki\u0026rdquo;; Ethics Committee of Children\u0026apos;s Hospital of Fudan University.\u003c/p\u003e\n\u003cp\u003eHuman Ethics and Consent to Participate declarations: not applicable.\u003c/p\u003e\n\u003cp\u003eClinical trial number: not applicable\u003c/p\u003e\n\u003cp\u003eAuthor contribution: Wei Dong is the one responsible for collecting the data and writing the paper. Haili Yao is the director in charge of managing these 22q11.2DS patients. Professor Xiaochuan Wang is my supervisor, the person responsible for the article\u0026apos;s conception and overall management of the patients, and Bijun Sun is the one responsible for providing 30% of the case data. Wenjie,Wang is in charge of managing these 22q11.2DS patients. Jinqiao,Sun is in charge of managing these 22q11.2DS patients.;Qinhua,zhou is in charge of managing these 22q11.2DS patients.;Jia,Hou is in charge of managing these 22q11.2DS patients.;Wenjing,Ying is in charge of managing these 22q11.2DS patients.;Chenghao,Wang is in charge of managing these 22q11.2DS patients.;Luyao,Liu is in charge of managing these 22q11.2DS patients.;Lipin,Liu is in charge of managing these 22q11.2DS patients.\u003c/p\u003e\n\u003cp\u003eData availability：All the data of the patients can be obtained completely. All the data are original data. All authors have no conflicts of interest. All authors work in Department of Pediatric Immunology at Fudan Children\u0026rsquo;s hospital\u003c/p\u003e\n\u003cp\u003eConflict of interest declaration: All the data are original data. All authors have no conflicts of interest. The article was not submitted to other publications. After being accepted by the magazine, the copyright of the article belongs to the magazine.\u003c/p\u003e\n\u003cp\u003eAcknowledgement: We are grateful to the patients and their parents for their participation and cooperation in this study. We thank the Bioinformatics Team of Fudan University Children\u0026apos;s Hospital for whole-exome sequencing(WES).\u003c/p\u003e\n\u003cp\u003eFunding: The Shanghai Municipal Science and Technology Major Project, Grant/Award Number: ZD2021CY001.\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\n\u003cli\u003eOlsen L, Spars\u0026oslash; T, Weinsheimer SM, et al. Prevalence of rearrangements in the 22q11.2 region and population-based risk of neuropsychiatric and developmental disorders in a Danish population: a case-cohort study. Lancet Psychiatry. 2018;5(7):573\u0026ndash;80.\u003c/li\u003e\n\u003cli\u003eBiggs SE, Gilchrist B, May KR. Chromosome 22q11.2 Deletion (DiGeorge Syndrome): Immunologic Features, Diagnosis, and Management. Curr Allergy Asthma Rep. 2023 Apr;23(4):213-222.\u003c/li\u003e\n\u003cli\u003eBoot E, \u0026Oacute;skarsd\u0026oacute;ttir S, Loo JCY, etal. Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome. Genet Med. 2023 Mar;25(3):100344. \u003c/li\u003e\n\u003cli\u003eMustillo PJ, Sullivan KE, Chinn IK, etal. Clinical practice guidelines for the immunological management of chromosome 22q11.2 deletion syndrome and other defects in thymic development. J Clin Immunol. 2023;43(2):247\u0026ndash;70.\u003c/li\u003e\n\u003cli\u003eDavies EG. Immunodeficiency in DiGeorge syndrome and options for treating cases with complete athymia. Front Immunol. 2013;4:322.\u003c/li\u003e\n\u003cli\u003eCrockett AM, Kebir H, Benallegue N, etal. Immune status of the murine 22q11.2 deletion syndrome model. Eur J Immunol. 2023 Jan;53(1):e2249840.\u003c/li\u003e\n\u003cli\u003eQin X, Chen J, Zhou T. 22q11.2 deletion syndrome and schizophrenia. Acta Biochim Biophys Sin (Shanghai). 2020 Dec 11;52(11):1181-1190.\u003c/li\u003e\n\u003cli\u003e米路雅. 64例22q11.2微缺失胎儿的临床表型和遗传学分析[D]. 河南:郑州大学,2024.\u003c/li\u003e\n\u003cli\u003eZhao Y, Guo T, Fiksinski A, etal. International 22q11.2 Brain and Behavior Consortium. Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects. Am J Med Genet A. 2018 Oct;176(10):2172-2181. \u003c/li\u003e\n\u003cli\u003eNissan E, Katz U, Levy-Shraga Y, etal. Clinical Features in a Large Cohort of Patients With 22q11.2 Deletion Syndrome. J Pediatr. 2021 Nov;238:215-220.e5.\u003c/li\u003e\n\u003cli\u003eDong X, Liu L, Wang Y, Yang X, Wang W, Lin L, et al. Novel heterogeneous mutation of TNFAIP3 in a Chinese patient with Behcet-like phenotype and persistent EBV viremia. J Clin Immunol. 2019;39(2):188\u0026ndash;94.\u003c/li\u003e\n\u003cli\u003eDing Y, Zhou L, Xia Y, Wang W, Wang Y, Li L, et al. Reference values for peripheral blood lymphocyte subsets of healthy children in China. J Allergy Clin Immunol. 2018;142(3):970\u0026ndash;3. \u003c/li\u003e\n\u003cli\u003eR. Kliegman, B. Stanton, J. St. Geme, N. Schor, etal. Nelson\u0026rsquo;s textbook of pediatrics (20th edn.), Elsevier, Philadelphia, 2016, Hardcover (2 volumes) 3,888 pp.ISBN 978-1-4557-7566-8. \u003c/li\u003e\n\u003cli\u003eBrian D. Coley, (2013). Caffey\u0026rsquo;s Pediatric Diagnostic Imaging, 2-Volume Set, 12th ed.1784 pp., Hardcover, ISBN: 978-0323081764.\u003c/li\u003e\n\u003cli\u003eCirillo A, Lioncino M, Maratea A,etal. Clinical Manifestations of 22q11.2 Deletion Syndrome. Heart Fail Clin. 2022 Jan;18(1):155-164. \u003c/li\u003e\n\u003cli\u003eCillo F, Coppola E, Habetswallner F, etal. Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors. Genes (Basel). 2024 Feb 29;15(3):321.\u003c/li\u003e\n\u003cli\u003eWu D, Chen Y, Xu C, etal. Characteristic face: a key indicator for direct diagnosis of 22q11.2 deletions in Chinese velocardiofacial syndrome patients. PLoS One. 2013;8(1):e54404.\u003c/li\u003e\n\u003cli\u003eJackson O, Crowley TB, Sharkus R, etal. Palatal evaluation and treatment in 22q11.2 deletion syndrome. Am J Med Genet A.2019;179:1184-95.\u003c/li\u003e\n\u003cli\u003eMonteiro FP, Vieira TP, Sgardioli IC, etal. Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature. Eur J Pediatr. 2013 Jul;172(7):927-45. \u003c/li\u003e\n\u003cli\u003eJiang L, Yang Y, Liu Q. Speech Therapy in Velocardiofacial Syndrome After Palatopharyngeal Pharyngoplasty. J Craniofac Surg. 2018 Oct;29(7):1709-1712.\u003c/li\u003e\n\u003cli\u003eKitsiou-Tzeli S, Kolialexi A, Mavrou A. Endocrine manifestations in DiGeorge and other microdeletion syndromes related to 22q11.2. Hormones (Athens). 2005 Oct-Dec;4(4):200-9.\u003c/li\u003e\n\u003cli\u003eBrown JJ, Datta V, Browning MJ, etal. Graves\u0026apos; disease in DiGeorge syndrome: patient report with a review of endocrine autoimmunity associated with 22q11.2 deletion. J Pediatr Endocrinol Metab. 2004 Nov;17(11):1575-9.\u003c/li\u003e\n\u003cli\u003eGoldmuntz E. 22q11.2 deletion syndrome and congenital heart disease. Am J Med Genet C Semin Med Genet. 2020 Mar;184(1):64-72.\u003c/li\u003e\n\u003cli\u003eMcdonald R, Dodgen A, Goyal S, et al. Impact of 22q11.2 deletion on the postoperative course of children after cardiac surgery[J].Pediatr Cardiol,2013,34(2):341\u0026ndash;347.\u003c/li\u003e\n\u003cli\u003eLackey AE, Muzio MR. DiGeorge Syndrome. 2023 Aug 8. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan\u0026ndash;. PMID: 31747205.\u003c/li\u003e\n\u003cli\u003eKuo CY, Signer R, Saitta SC. Immune and Genetic Features of the Chromosome 22q11.2 Deletion (DiGeorge Syndrome). Curr Allergy Asthma Rep. 2018 Oct 30;18(12):75.\u003c/li\u003e\n\u003cli\u003eBiggs SE, Gilchrist B, May KR. Chromosome 22q11.2 Deletion (DiGeorge Syndrome): Immunologic Features, Diagnosis, and Management. Curr Allergy Asthma Rep. 2023 Apr;23(4):213-222.\u003c/li\u003e\n\u003cli\u003ePatel K, Akhter J, Kobrynski L, et al. Immunoglobulin deficiencies: the B-lymphocyte side of DiGeorge syndrome. J Pediatr. 2012;161(5):950\u0026ndash;3.\u003c/li\u003e\n\u003cli\u003eSmith CA, Driscoll DA, Emanuel BS, etal. Increased prevalence of immunoglobulin A deficiency in patients with the chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome) Clin Diagn Lab Immunol. 1998;5(3):415\u0026ndash;417. \u003c/li\u003e\n\u003cli\u003eAl-Herz W, McGeady SJ, Gripp KW. 22q11.2 deletion syndrome and selective IgM deficiency: an association of a common chromosomal abnormality with a rare immunodeficiency. Am J Med Genet A. 2004;127A(1):99\u0026ndash;100.\u003c/li\u003e\n\u003cli\u003eKung SJ, Gripp KW, Stephan MJ, etal. Selective IgM deficiency and 22q11.2 deletion syndrome. Ann Allergy Asthma Immunol. 2007;99(1):87\u0026ndash;92.\u003c/li\u003e\n\u003cli\u003e\u0026Oacute;skarsd\u0026oacute;ttir, S. ∙ Persson, C. ∙ Eriksson, B.O, etal. Presenting phenotype in 100 children with the 22q11 deletion syndrome Eur J Pediatr. 2005; 164:146-153.\u003c/li\u003e\n\u003cli\u003eMcdonald-Mcginn DM, Sullivan KE.Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)[J].Medicine (Baltimore),2011,90(1):1\u0026ndash;18. \u003c/li\u003e\n\u003cli\u003eAlKalaf HY, AlHashem AM, AlSaleh NS,etal. Epilepsy, neuropsychiatric phenotypes, neuroimaging findings, and genotype-neurophenotype correlation in 22q11.2 deletion syndrome. Neurosciences (Riyadh). 2020 Aug;25(4):287-291.\u003c/li\u003e\n\u003cli\u003eKao A, Mariani J, McDonald-McGinn DM, et al. Increased prevalence of unprovoked seizures in patients with a 22q11.2 deletion. Am J Med Genet A 2004; 129A: 29\u0026ndash;34.\u003c/li\u003e\n\u003cli\u003eKim EH, Yum MS, Lee BH, et al. Epilepsy and other neuropsychiatric manifestations in children and adolescents with 22q11.2 deletion syndrome. J Clin Neurol 2016; 12: 85\u0026ndash;92. \u003c/li\u003e\n\u003cli\u003eWither RG, Borlot F, MacDonald A, etal. 22q11.2.2 deletion syndrome lowers seizure threshold in adult patients without epilepsy.2017.58(6):1095\u0026ndash;1101.\u003c/li\u003e\n\u003cli\u003eGe R, Ching CRK, Bassett AS, etal. Source-based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome. Hum Brain Mapp. 2024 Jan;45(1):e26553. \u003c/li\u003e\n\u003cli\u003eMeechan DW, Tucker ES, Maynard TM, etal. Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome. Proc Natl Acad Sci USA. 2009;106:16434-45.\u003c/li\u003e\n\u003cli\u003eAntshel KM, Fremont W, Ramanathan S,etal. Predicting Cognition and Psychosis in Young Adults With 22q11.2 Deletion Syndrome. Schizophrenia Bulletin.2017;43(4), 833\u0026ndash;842.\u003c/li\u003e\n\u003cli\u003eDemily C, Rossi M, Schneider M, etal. Perspectives actuelles dans la microd\u0026eacute;l\u0026eacute;tion 22q11.2 : prise en charge du ph\u0026eacute;notype neurocomportemental [Neurocognitive and psychiatric management of the 22q11.2 deletion syndrome]. Encephale. 2015 Jun;41(3):266-73. French.\u003c/li\u003e\n\u003c/ol\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":false,"highlight":"","institution":"","isAcceptedByJournal":false,"isAuthorSuppliedPdf":false,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"immunologic-research","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"imre","sideBox":"Learn more about [Immunologic Research](http://link.springer.com/journal/12026)","snPcode":"12026","submissionUrl":"https://submission.nature.com/new-submission/12026/3","title":"Immunologic Research","twitterHandle":"","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"stoa","reportingPortfolio":"Springer Hybrid","inReviewEnabled":true,"inReviewRevisionsEnabled":false},"keywords":"22q11.2 deletion syndrome, Clinical phenotypes, Immunology manifestations, Neurological manifestations, Follow-up","lastPublishedDoi":"10.21203/rs.3.rs-9443851/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-9443851/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003ch2\u003eObjectives\u003c/h2\u003e \u003cp\u003e22q11.2 Deletion Syndrome (22q11.2 DS) is an immunodeficiency disorder characterized by a abroad spectrum of clinical phenotypes, including facial dysmorphism, congenital heart and palate malformations, immune deficiencies, endocrine abnormalities, hypocalcemia as well as neurodevelopmental disorders. We aim to describe the clinical phenotypes and follow-up of a Chinese pediatric cohort with 22q11.2 DS.\u003c/p\u003e\u003ch2\u003eMethods\u003c/h2\u003e \u003cp\u003eA retrospective study was conducted on patients diagnosed with 22q11.2 DS from August 2008 to October 2025. The clinical, immunological, neurological and follow-up data were collected from electronic medical records. Diagnosis was confirmed using fluorescence in situ hybridization (FISH), multilink probe amplification technique (MLPA), array comparative genomic hybridization (aCGH) or whole-exome sequencing (WES).\u003c/p\u003e\u003ch2\u003eResults\u003c/h2\u003e \u003cp\u003eThe general clinical manifestations of 51 patients included:(1) Facial dysmorphism (31.4%, 16/51); Palatopharyngeal malformations (21.6%, 11/51) ; Congenital heart disease (76.5%, 39/51); Endocrine abnormalities (45.1%, 23/51). (2) Immune characteristics: The incidence of recurrent infections was 31.4% (16/51); Immunomodulatory therapy (thymopentin or IVIG) was administered to 39.2% (20/51) of patients. T-cell deficiency (30/51), associated with thymic hypoplasia or aplasia (23.5%, 12/51). (3) Central nervous system characteristics: Neurological abnormalities (58.8%, 30/51), cognitive and developmental delay, epilepsy, and hypocalcemic seizures were the most common. Intelligence testing (25.5%, 13/51) revealed subnormal scores in all cases. Neuroimaging (89.7%, 35/39) commonly showed subdural hemorrhage and cerebral dysgenesis. (4) Follow-up data: As for 45 patients, T-cell immunodeficiency was in 26.7% (12/45) and ongoing immunomodulatory therapy was in 15.6% (7/45). The rate of neurodevelopmental abnormalities increased to 71.1% (32/45), learning difficulties being most common.\u003c/p\u003e\u003ch2\u003eConclusion\u003c/h2\u003e \u003cp\u003eWe found congenital heart disease combined with facial deformity should be vigilantly of 22q11.2 DS and carried out genetic testing. Systematic follow-up and monitoring of immune function and neurodevelopmental abnormalities are beneficial for improving the prognosis of the children.\u003c/p\u003e","manuscriptTitle":"The Clinical phenotypes and Follow-up of 51 Chinese patients with 22q11.2 Deletion Syndrome","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2026-05-04 06:51:58","doi":"10.21203/rs.3.rs-9443851/v1","editorialEvents":[{"type":"communityComments","content":0},{"type":"editorInvitedReview","content":"","date":"2026-05-13T05:07:59+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"115957819366782281511862842021377578033","date":"2026-04-23T23:38:56+00:00","index":"hide","fulltext":""},{"type":"reviewersInvited","content":"","date":"2026-04-21T14:26:22+00:00","index":"","fulltext":""},{"type":"editorAssigned","content":"","date":"2026-04-20T23:57:01+00:00","index":"","fulltext":""},{"type":"checksComplete","content":"","date":"2026-04-20T23:56:01+00:00","index":"","fulltext":""},{"type":"submitted","content":"Immunologic Research","date":"2026-04-17T04:08:16+00:00","index":"","fulltext":""}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"immunologic-research","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"imre","sideBox":"Learn more about [Immunologic Research](http://link.springer.com/journal/12026)","snPcode":"12026","submissionUrl":"https://submission.nature.com/new-submission/12026/3","title":"Immunologic Research","twitterHandle":"","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"stoa","reportingPortfolio":"Springer Hybrid","inReviewEnabled":true,"inReviewRevisionsEnabled":false}}],"origin":"","ownerIdentity":"4e8137d1-cf6c-4b7f-8b41-ff9db41e0afa","owner":[],"postedDate":"May 4th, 2026","published":true,"recentEditorialEvents":[{"type":"editorInvitedReview","content":"","date":"2026-05-13T05:07:59+00:00","index":27,"fulltext":""}],"rejectedJournal":[],"revision":"","amendment":"","status":"under-review","subjectAreas":[],"tags":[],"updatedAt":"2026-05-04T06:52:02+00:00","versionOfRecord":[],"versionCreatedAt":"2026-05-04 06:51:58","video":"","vorDoi":"","vorDoiUrl":"","workflowStages":[]},"version":"v1","identity":"rs-9443851","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-9443851","identity":"rs-9443851","version":["v1"]},"buildId":"XKTyCvWXoU3ODBz1xrDgd","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}