EP073: Interstitial deletion of 3q21 in a child with multiple congenital anomalies; Expanding the phenotype

Abstract

Interstitial deletions in the long arm of chromosome 3 although relatively rare, have been reported to be associated with several congenital anomalies and developmental delays. Around eleven individuals with interstitial deletion spanning the region 3q21 have been reported with overlapping phenotype, including craniofacial dysmorphism, global developmental delay, skeletal manifestations, hypotonia, ophthalmological abnormalities, brain anomalies (mainly agenesis of corpus callosum), genitourinary tract anomalies, failure to thrive and microcephaly.