Egyptian female with 8q22.2q22.3 microdeletion syndrome

Abstract

8q22.2q22.3 microdeletion syndrome is a rare chromosomal anomaly that was first described 11 years ago. Main symptoms of this condition include delayed development, autism, epilepsy and characteristic facial features. Up to date, only eight cases with interstitial heterozygous deletions at 8q22.2q22.3 have been previously reported. Here, we reported a new patient from Egypt representing the first documented case in Africa and Middle East. Furthermore, we compared the clinical and molecular findings of all patients. All subjects differed in the deletion size and breakpoints with a minimal deletion overlap of 0.43 Mb containing at least 14 OMIM genes. The molecular profile of the reported cases may denote that the disease phenotype is mainly assigned by haploinsufficiency of several cognate genes, rather than deletion of specific genes as separate entities.