A search for chromosome 22q11.2 deletions in a series of 176 consecutively catheterized patients with congenital heart disease: no evidence for deletions in non-syndromic patients |
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Authors: | S Borgmann I Luhmer M Arslan-Kirchner H -C Kallfelz J Schmidtke |
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Institution: | Institut für Humangenetik, Medizinische Hochschule Hannover, Carl-Neuberg-Strasse 1, D-30625 Hannover. |
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Abstract: | Microdeletions in chromosome 22q11.2 are associated with DiGeorge syndrome (DGS), velo-cardio-facial syndrome (VCFS), and
several other syndromes, collectively referred to as DG/VCF. Non-dysmorphic patients with cardiac defects have also been attributed
to deletions in this chromosomal region. In this study 157 consecutively catheterized patients with isolated, non-syndromic
cardiac defects, and 25 patients with cardiac defects and additional stigmata (10 of whom were clinically diagnosed as DG/VCF
cases prior to chromosome analysis) were analysed by fluorescence in situ hybridization with the DGS-specific probe D0832.
Chromosome 22q11.2 deletions were observed only in the ten patients with the clinical diagnosis of DG/VCF.
Conclusion In a large unselected cohort of patients with congenital heart disease no association between isolated or non-syndromic heart
defects and the 22q11.2 microdeletion was observed. One can conclude that testing for the 22q11.2 microdeletion is clearly
indicated in cases when even mild extracardiac abnormalities are present, particularly in very young infants.
Received: 24 February 1998 / Accepted in revised form: 04 May 1999 |
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Keywords: | Chromosome 22q11 2 microdeletion Isolated congenital heart disease |
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