Partial Deletion of Chromosome 6p: Autopsy Findings in a Premature Infant and Review of the Literature

Abstract

Autopsy findings for a premature infant with terminal deletion of 6p [46, XY, del(6)p23] are reported. The infant had multiple dysmorphic features, cleft lip and palate, abnormal external genitalia, diverticulum of right ventricle, and hydrocephalus with cerebellar hypoplasia, with absent corpus callosum and cerebellar vermis.