15q26 Deletion in a Patient with Congenital Heart Defect, Growth Restriction and Intellectual Disability: Case Report and Literature Review

Background: 15q26 deletion is a relatively rare chromosomal disorder described in only few cases. Patients with this aberration display numerous symptoms particularly, pre- and postnatal growth restriction, microcephaly, intellectual disability, dysmorphic gestalt and various congenital malformations. Case presentation We report on a girl, four years old, of consanguineous parents, with a de novo 15q26 deletion. Clinical manifestations included failure to thrive, microcephaly, dysmorphic facies with broad forehead, hypertelorism, narrowed eyelid slits and protruding columella. The patient also showed skeletal abnormalities, especially clinodactyly of the 5th finger, varus equine right foot and left club foot. Additionally, she had teething delay and divergent strabismus. Heart ultrasound displayed a left-to-right shunt, two atrial septal defects, enlarging the right heart cavities. Routine cytogenetic analysis revealed a shortened 15 chromosome with an abnormally short ened long (q) arm. Subsequent array analysis disclosed a terminal 9.15 Mb deletions detected in band 15q26.1-q26.3. Five candidate genes associated with 15q26 deletion phenotype were within the deleted region, i.e. IGF1R , NR2F2 , MEF2A , MCTP2, and CHD2 . Conclusion: 15q26 monosomy should be considered when growth retardation is associated with ear anomaly, clinodactyly and/or abnormal toe, heart defect mainly atrioventricular septal defects (AVSDs) and/or aortic arch anomaly (AAA).