Co-occurrence of chromosome 22q11.2 microdeletion and trisomy 21 mosaicism

Derbent M., Saygili A., Yilmaz Z., Kervancioglu M., Balci S., Tokel K.

AMERICAN JOURNAL OF MEDICAL GENETICS, vol.112, no.1, pp.99-102, 2002 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 112 Issue: 1
  • Publication Date: 2002
  • Doi Number: 10.1002/ajmg.10545
  • Journal Name: AMERICAN JOURNAL OF MEDICAL GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.99-102
  • Hacettepe University Affiliated: No

Abstract

This report describes a patient who had some phenotypic features of Down syndrome (DS) as well as severe conotruncal cardiac anomalies, including pulmonary atresia with ventricular septal defect (tetralogy of Fallot with pulmonary atresia), confluent pulmonary arteries, a large left-sided ductus arteriosus, left aortic arch, aberrant right subclavian artery, and secundum atrial septal defect. Cytogenetic and fluorescence in situ hybridization (FISII) analysis was carried out on peripheral blood lymphocytes and skin fibroblasts using probes specific for the chromosomal loci 21q22.13 to 21q22.2 and locus 22q11.2. This revealed 47,XX+21/46,XX mosaicism. at a rate of 15:85 and the micro-deletion 22q11.2 (del22q11.2). Some patients' congenital cardiac anomalies are atypical for the type of mosaicism or aneuploidy. The case suggests that association of del22q11.2 should be considered in patients with chromosomal mosaicisim or aneuploidy who also have particular conotruncal cardiac defects. (C) 2002 Wiley-Liss, Inc.