A search for chromosome 22q11.2 deletions in a series of 176 consecutivelycatheterized patients with congenital heart disease: no evidence for deletions in non-syndromic patients

Microdeletions in chromosome 22q11.2 are associated with DiGeorge syndrome (DGS), velo-cardio-facial syndrome (VCFS), and several other syndromes, col lectively referred to as DG/VCF. Non-dysmorphic patients with cardiac defec ts have also been attributed to deletions in this chromosomal region. In th is study 157 consecutively catheterized patients with isolated: non-syndrom ic cardiac defects, and 25 patients with cardiac defects and additional sti gmata (10 of whom were clinically diagnosed as DG/VCF cases prior to chromo some 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 d isease no association between isolated or non-syndromic heart defects and t he 22q11.2 microdeletion was observed. One can conclude that testing for th e 22q11.2 microdeletion is clearly indicated in cases when even mild extrac ardiac abnormalities are present, particularly in very young infants.