Deletion of terminal portion of 6q: Report of a case with unusual malformations

Abstract

We present the necropsy findings of a 21-week-gestation male fetus with deletion of the terminal portion of long arm of chromosome 6 [46,XY,del(6)(q23----qter)]. Major anomalies include intrauterine growth retardation, facial anomalies, nuchal cyst, scoliosis, bilateral diaphragmatic hernias, persistent common atrioventricular canal, absent olfactory bulbs and agenesis of corpus callosum. In aberrations of chromosome 6q, patients usually have psychomotor retardation, somatic growth failure, and facial anomalies; nuchal cyst and bilateral diaphragmatic hernias have not yet been described.