Article
Imprinting centre deletions in two PWS families: implications for diagnostic testing and genetic counseling.
Clinical genetics - 1 Oct 2000
Buiting K, Färber C, Kroisel P, Wagner K, Brueton L, Robertson M E, Lich C, Horsthemke B
Abstract excerpt
Prader-Willi syndrome (PWS) is a complex genetic syndrome involving imprinted genes on chromosome 15. It is usually sporadic, and very few affected siblings have been described. Here, we report the clinical and molecular findings in two families with a microdeletion affecting the chromosome 15 imprinting centre (IC). Carrier males have a 50% risk of having children with an imprinting defect leading to PWS, and in...
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