Abstract
DiGeorge (DGS, MIM 188400) and velocardiofacial (VCFS, MIM 192430) syndromes may present many clinical problems including cardiac defects, hypoparathyroidism, T-cell immunodeficiency and facial dysmorphism1. They are frequently associated with deletions within 22q11.2, but a number of cases have no detectable molecular defect of this region2,3. A number of single case reports with deletions of 10p suggest genetic heterogeneity of DGS. Here we compare the regions of hemi-zygosity in four patients with terminal deletions of 10p (one patient diagnosed as having hypoparathyroidism and three as DGS) and one patient with a large interstitial deletion (diagnosed as VCFS). Fluorescence in situ hybridization (FISH) analysis demonstrates that these patients have overlapping deletions at the 10p13/10p14 boundary. A YAC contig spanning the shortest region of deletion overlap (SRO) has been assembled, and allows the size of SRO to be approximated to 2 Mb. As with deletions of 22q11, phenotypes vary considerably between affected patients. These results strongly support the hypothesis that haploinsufficiency of a gene or genes within 10p (the DGSII locus) can cause the DGS/VCFS spectrum of malformation.
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Daw, S., Taylor, C., Kraman, M. et al. A common region of 10p deleted in DiGeorge and velocardiofacial syndromes. Nat Genet 13, 458–460 (1996). https://doi.org/10.1038/ng0896-458
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DOI: https://doi.org/10.1038/ng0896-458
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