Duplication of the 22q11.2 region associated with congenital cardiac disease

The DiGeorge, or velocardiofacial, syndrome has been aetiologically linked to heterozygous deletion of the q11.2 region of chromosome 22. It is the most common of the microdeletion syndromes, and is associated with malformations involving the ventricular outflow tracts. Duplication of the 22q11.2 re...

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Bibliographic Details
Published in:Cardiology in the young 2005-03, Vol.15 (2), p.229-231
Main Authors: Sparkes, Rebecca, Chernos, Judy, Dicke, Franciscus
Format: Article
Language:English
Subjects:
Brief Report
Chromosomes
Deoxyribonucleic acid
DNA
Female
Fluorescence in situ hybridization
Gene Duplication
genetics
Heart Diseases - congenital
Heart Diseases - genetics
Humans
hypoplastic left heart
Infant, Newborn
Male
Mortality
Patients
tetralogy of Fallot
Velocardiofacial syndrome
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Summary:The DiGeorge, or velocardiofacial, syndrome has been aetiologically linked to heterozygous deletion of the q11.2 region of chromosome 22. It is the most common of the microdeletion syndromes, and is associated with malformations involving the ventricular outflow tracts. Duplication of the 22q11.2 region has also been reported, adding to a growing list of syndromes involving genomic deletion or duplication that cause disease by decreasing or increasing the gene dosage. We report two cases of congenital cardiac disease associated with microduplications of 22q11.2, and discuss the evidence to date for the potential clinical significance of this genetic defect.
ISSN:1047-9511
1467-1107
DOI:10.1017/S1047951105000466