Cardiac anomalies associated with a chromosome 22q11 deletion in patients with conotruncal anomaly face syndrome.
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.
Momma
K
K
Department of Pediatric Cardiology, Tokyo Women's Medical College, Japan.
Kondo
C
C
Matsuoka
R
R
Takao
A
A
D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D019066:Facies; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male