Hemizygosity of chromosome 22q11 and human birth defects

Hemizygosity for a region of chromosome 22q11 causes a wide range of congenital defects including Digeorge syndrome, Shprintzen (velo-cardiofacial syndrome) and congenital heart disease. There are now several well characterised DNA probes that can detect these deletions, and… [End date:30/06/1996] URI:http://cordis.europa.eu/project/rcn/17848_en.html

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