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

Am J Cardiol. 1996 Sep 1;78(5):591-4. doi: 10.1016/s0002-9149(96)00374-8.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 22*
  • Facies*
  • Female
  • Heart Defects, Congenital / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male