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New trends in chromosomal investigation in children with cardiovascular malformations

Published online by Cambridge University Press:  21 January 2005

Ruth Schellberg ,
Gesa Schwanitz ,
Lutz Grävinghoff ,
Rolf Kallenberg ,
Detlef Trost ,
Ruth Raff  and
Walter Wiebe
Ruth Schellberg
Affiliation:
Institute of Human Genetics, University Bonn, Germany
Gesa Schwanitz
Affiliation:
Institute of Human Genetics, University Bonn, Germany
Lutz Grävinghoff
Affiliation:
Asklepios Clinic, Deutsches Kinderherzzentrum, Sankt Augustin, Germany
Rolf Kallenberg
Affiliation:
Asklepios Clinic, Deutsches Kinderherzzentrum, Sankt Augustin, Germany
Detlef Trost
Affiliation:
Institute of Human Genetics, University Bonn, Germany
Ruth Raff
Affiliation:
Institute of Human Genetics, University Bonn, Germany
Walter Wiebe
Affiliation:
Asklepios Clinic, Deutsches Kinderherzzentrum, Sankt Augustin, Germany
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Abstract

We investigated a group of 376 children, seen over a period of 7 years with different types of congenital cardiovascular defects, to assess the presence of chromosomal aberrations. The diagnostic approach, achieved in 3 consecutive steps, revealed conventional chromosomal aberrations in 30 of the patients (8%) excluding trisomies 13, 18, 21. Fluorescence in situ hybridisation for microdeletions showed 51 microdeletions (15%), with 43 patients having deletions of 22q11.2, 7 patients with deletion of 7q11.23, and 1 patient with deletion of 4p16.3. In 23 patients with additional clinical abnormalities, we carried out a subtelomeric screening. This revealed, in two cases (9%), different subtelomeric aberrations, namely deletions of 1p and of 1q. Thus, subtelomeric screening proved to be a very valuable as a new diagnostic approach. Our approach to genetic investigation in three phases makes it possible to detect a high rate of pathologic karyotypes in patients with congenital cardiovascular malformations, thus guaranteeing more effective genetic counselling of the families, and a more precise prognosis for the patient.

Keywords

Chromosomal aberrationsmicrodeletionssubtelomeric aberrationsfluorescence in situ hybridisation
Type
Original Article
Information
Cardiology in the Young , Volume 14 , Issue 6 , December 2004 , pp. 622 - 629
Copyright
© 2004 Cambridge University Press

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