EP419: Genotype-phenotype correlation of distal 18q deletions less than 5 Mb

Abstract

Deletions of 18q have been reported relatively frequently, with the majority of patients presenting with a deletion of the distal part including the region of 8q22q23 (distal 18q deletion). The deletion size varies between 0.5-30 Mb with unique breakpoints for each patient. While the phenotype of each individual shows great variability, there is a set of common clinical features for distal 18q deletion which include short stature, microcephaly, midface hypoplasia, hypertelorism, congenital aural atresia (CAA), foot deformities, mental retardation (MR), and hypotonia.