Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2

TLDR

CTAFS is a syndrome of distinctive facial features and congenital heart disease that closely resembles DiGeorge anomaly, which is linked to 22q11.2 deletions. The authors used fluorescent in situ hybridization with the N25 (D22S75) DGCR probe to screen 50 CTAFS patients, 10 DGA patients, their parents, and 60 CHD controls for 22q11.2 deletions. Monosomy 22q11.2 was detected in 42 CTAFS, 9 DGA, 4 mothers, and 1 father with CTAF without CHD, while 8 CTAFS, 1 DGA, and 1 mother showed no deletion, and none of the 60 CHD controls had a deletion, confirming CTAFS as part of the CATCH‑22 syndrome. © 1994 Wiley‑Liss, Inc.

Abstract

Abstract The so‐called “conotruncal anomaly face syndrome” (CTAFS) is characterized by a peculiar facial appearance associated with congenital heart disease (CHD), especially cardiac outflow tract defects such as tetralogy of Fallot (TOF), double outlet right ventricle (DORV), and truncus arteriosus (TAG). CTAFS and the DiGeorge anomaly (DGA) have many similar 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 patients, 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). Monosomy for a region of 22q11.2 was found in 42 CTAFS, 9 DGA, 4 mothers, and 1 father who had CTAF without CHD. The remaining 8 CTAFS patients, 1 DGA patient and 1 mother who had questionable CTAF without CHD, showed no such chromosome abnormality. For the control, 60 patients who had CHD without CTAF or other know malformation syndromes were examined and had no deletion of 22q11.2. Therefore, we conclude that CTAFS is a part of the CATCH 22 syndrome; cardiac defects, abnormal faces, thymic hypoplasia, c left palate, and h ypocalcemia (CATCH) resulting from 22q11.2 deletions. © 1994 Wiley‐Liss, Inc.