RAPID PUBLICATION - AUTOSOMAL-DOMINANT OPITZ GBBB SYNDROME DUE TO A 22Q11.2 DELETION

We report on a family with autosomal dominant paternally inherited ''O pitz'' GBBB syndrome and an additional case with findings which have b een reported in that syndrome. In each case the propositus presented w ith a vascular ring. Since a vascular ring may be a sign of a 22q11.2 deletion [Zackai et al., 1995], FISH (fluorescence in situ hybridizati on) studies were performed. These studies demonstrated a 22q11.2 delet ion in the 3 affected individuals. Review of Opitz GBBB syndrome and t he 22q11.2 microdeletion syndrome demonstrates significant overlap of manifestations including both facial characteristics and structural an omalies. Based on the phenotypic overlap and the presence of a 22q11.2 deletion in our patients with Opitz GBBB syndrome and the presence of a deletion in a patient with lung hypoplasia, absent pulmonary artery , and long segment tracheomalacia, we propose that, in some cases, the Opitz GBBB syndrome may be due to a 22q11.2 deletion. This enlarges t he list of ''syndromes'' associated with the 22q11.2 deletion, which p resently includes most patients with DiGeorge, velocardiofacial, and c onotruncal anomaly face syndrome. (C) 1995 Wiley-Liss, Inc.