New-Onset Seizure in a Case with 109 kb Interstitial Deletion of Chromosome 7q33: Case Report

We report a case of interstitial deletion of chromosome 7q33 in a 4-year-old male who had dysmorphic features such as microcephaly, short stature, developmental and language delay, and a new-onset seizure with status epilepticus. This deletion is unique because it is the smallest deletion reported to date within this region of chromosome 7. We aim to expand the knowledge base of this deletion and to further characterize its neurological phenotypes. We present a case of interstitial deletion involving chromosome 7q33 in a 4-year-old male exhibiting dysmorphic features, including microcephaly, short stature, developmental and language delays, and a recent onset seizure progressing to status epilepticus. This deletion stands out as the smallest one documented within the 7q33 region to date. Our objective is to enhance the understanding of this deletion and provide a more comprehensive characterization of its associated neurological phenotypes.