CONFIRMATION THAT THE CONOTRUNCAL ANOMALY FACE SYNDROME IS ASSOCIATEDWITH A DELETION WITHIN 22Q11.2

The so-called ''conotruncal anomaly face syndrome'' (CTAFS) is charact erized by a peculiar facial appearance associated with congenital hear t disease (CHD), especially cardiac outflow tract defects such as tetr alogy of Fallot (TOF), double outlet right ventricle (DORV), and trunc us arteriosus (TAC). CTAFS and the DiGeorge anomaly (DGA) have many si milar phenotypic characteristics, suggesting that they share a common cause. In many cases DGA is known to be associated with monosomy for a region of chromosome 22q11.2. Fifty CTAFS patients and 10 DGA patient s, 11 parents couples and 10 mothers of CTAFS patients, and 3 parents couples and 2 mothers of DGA patients were examined by fluorescent in situ hybridization (FISH) using the N25 (D22S75) DGCR probe (Oncor). M onosomy for a region of 22q11.2 was found in 42 CTAFS, 9 DGA, 4 mother s, and 1 father who had CTAF without CHD. The remaining 8 CTAFS patien ts, 1 DGA patient and 1 mother who had questionable CTAF without CHD, showed no such chromosome abnormality. For the control, 60 patients wh o had CHD without CTAF or other know malformation syndromes were exami ned and had no deletion of 22q11.2. Therefore, we conclude that CTAFS is a part of the CATCH 22 syndrome; cardiac defects, abnormal faces, t hymic hypoplasia, cleft palate, and hypocalcemia (CATCH) resulting fro m 22q11.2 deletions. (C) 1994 Wiley-Liss, Inc.