Proximal 7q interstitial deletion in a severely mentally retarded and mildly abnormal infant

Abstract

We describe a boy with an interstitial deletion of 7q [46,XY,del(7)(pter-->q11.21::q11.23-->qter)] and severe mental retardation, bilateral inguinal hernias, plagiocephaly, and mildly abnormal facial appearance. This is the 21st case report involving a proximal 7q deletion, but the first report of this specific deletion in the absence of Zellweger syndrome. Specific genotype-phenotype correlations are still not possible for this region of chromosome 7.