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

Francesco Morini, Michele Ilari, Alessandra Casati, Antonietta Piserà, Lucia Oriolo, Denis A. Cozzi

Research output: Contribution to journalArticle

8 Citations (Scopus)

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 (FISH) 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 microdeletion 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 mosaicism or aneuploidy who also have particular conotruncal cardiac defects.

Original languageEnglish
Pages (from-to)99-102
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume112
Issue number1
DOIs
Publication statusPublished - Sep 15 2002

Fingerprint

Mosaicism
Down Syndrome
Chromosomes
Aneuploidy
Pulmonary Atresia
Ductus Arteriosus
Tetralogy of Fallot
Atrial Heart Septal Defects
DNA Probes
Fluorescence In Situ Hybridization
Thoracic Aorta
Cytogenetics
Pulmonary Artery
Fibroblasts
Lymphocytes
Skin

Keywords

  • 22q11.2
  • Aberrant right subclavian artery
  • Down syndrome
  • Microdeletion
  • Mosaicism
  • Pulmonary atresia

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Co-occurrence of chromosome 22q11.2 microdeletion and trisomy 21 mosaicism. / Morini, Francesco; Ilari, Michele; Casati, Alessandra; Piserà, Antonietta; Oriolo, Lucia; Cozzi, Denis A.

In: American Journal of Medical Genetics, Vol. 112, No. 1, 15.09.2002, p. 99-102.

Research output: Contribution to journalArticle

Morini, Francesco ; Ilari, Michele ; Casati, Alessandra ; Piserà, Antonietta ; Oriolo, Lucia ; Cozzi, Denis A. / Co-occurrence of chromosome 22q11.2 microdeletion and trisomy 21 mosaicism. In: American Journal of Medical Genetics. 2002 ; Vol. 112, No. 1. pp. 99-102.
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