CHROMOSOME 22Q11.2 DELETION IN A BOY WITH OPITZ (G BBB) SYNDROME/

This report is on a 14-month-old boy with manifestations of Opitz (G/B BB) syndrome in whom a 22q11.2 deletion was found. Deletion analysis w as requested because of some findings in this patient reminiscent of v elocardiofacial (VCF) syndrome. The extent of aspiration and of respir atory symptoms in this child is not usually seen in VCF syndrome. Opit z syndrome maps to at least two loci, one on Xp, the other on 22q11.2. (C) 1996 Wiley-Liss, Inc.