ISSN:
1432-1076
Keywords:
Key words Chromosome 22q11.2 microdeletion
;
Isolated congenital heart disease
;
AbbreviationsAS aortic stenosis
;
ASD atrial septal defect
;
CHD congenital heart disease
;
CoA coarctation of the aorta
;
CTAFS conotruncal anomaly face syndrome
;
DGS DiGeorge syndrome
;
FISH fluorescence in situ hybridization
;
PA pulmonary atresia
;
PDA patent ductus arteriosus
;
PS pulmonary stenosis
;
SAS subaortic stenosis
;
SPS subpulmonary stenosis
;
TGA transposition of the great arteries
;
TOF tetralogy of Fallot
;
VCFS velo-cardio-facial syndrome
;
VSD ventricular septal defect
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s004310051257
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