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

Published online by Cambridge University Press:  22 April 2005

Rebecca Sparkes ,
Judy Chernos  and
Franciscus Dicke
Rebecca Sparkes
Affiliation:
Department of Medical Genetics, University of Calgary, Alberta, Canada
Judy Chernos
Affiliation:
Department of Medical Genetics, University of Calgary, Alberta, Canada
Franciscus Dicke
Affiliation:
Division of Cardiology, Department of Pediatrics, University of Calgary, Alberta, Canada
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Abstract

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.

Keywords

Velocardiofacial syndrometetralogy of Fallothypoplastic left heartgenetics
Type
Brief Report
Information
Cardiology in the Young , Volume 15 , Issue 2 , March 2005 , pp. 229 - 231
Copyright
© 2005 Cambridge University Press

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References

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