Cardiac anomalies associated with a chromosome 22q11 deletion in patients with conotruncal anomaly face syndrome

K Momma, C Kondo, R Matsuoka, A Takao
American Journal of Cardiology 1996 September 1, 78 (5): 591-4
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 anomalies without intracardiac anomaly, 4 with interrupted aortic arch, 2 with double-outlet right ventricle, 2 with truncus arteriosus, 1 with complete transposition, and 1 with atrial septal defect.

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