Hostname: page-component-78c5997874-dh8gc Total loading time: 0 Render date: 2024-11-15T11:20:20.310Z Has data issue: false hasContentIssue false
  • English
  • Français

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
Get access Rights & Permissions [Opens in a new window]

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

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

McDonald-McGinn DM, Kirschner R, Goldmuntz E, et al. The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genet Couns 1999; 10: 11–24.Google Scholar
Driscoll DA, Budarf ML, Emanuel BS. A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am J Hum Genet 1992; 50: 924–933.Google Scholar
Stankiewicz P, Lupski JR. Genome architecture, rearrangements and genome disorders. Trends Genet 2002; 18: 74.Google Scholar
Ensenauer RE, Adewale A, Flynn HC, et al. Microduplication of 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients. Am J Hum Genet 2003; 73: 1027–1040.Google Scholar
Hassed S, Hopcus-Niccum D, Zhang L, Li S, Mulvihill J. A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome. Clin Genet 2004; 65: 400–404.Google Scholar