Blepharophimosis sequence and diaphragmatic hernia associated with interstitial deletion of chromosome 3 (46,XY,del(3)(q21q23)).

Abstract

A case of blepharophimosis, ptosis, and epicanthus inversus (BPES) associated with prenatally diagnosed diaphragmatic hernia and interstitial deletion of the long arm of chromosome 3, del(3)(q21q23), is reported. Comparison with other cases of BPES resulting from 3q rearrangements indicate that this disorder, previously assigned to 3q2, can now be more accurately mapped to 3q23.