K. Momma et al., CARDIAC ANOMALIES ASSOCIATED WITH A CHROMOSOMES 22Q11 DELETION IN PATIENTS WITH CONOTRUNCAL ANOMALY FACE SYNDROME, The American journal of cardiology, 78(5), 1996, pp. 591
Among 114 cardiac patients with conotruncal anomaly face syndrome and
DiGeorge syndrome, 100 patients were found to have a chromosome 22q11
deletion. Those with the deletion included 73 patients with tetralogy
of Fallot, 12 with ventricular septal defect, 5 with aortic arch anoma
lies without intracardiac anomaly, 4 with interrupted aortic arch, 2 w
ith double-outlet right ventricle, 2 with truncus arteriosus, I with c
omplete transposition, and 1 with atrial septal defect.