Article
Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader-Willi syndrome: confirmation by cell cloning and identification of candidate downstream genes.
Human molecular genetics - 15 Oct 2003
Horsthemke Bernhard, Nazlican Hülya, Hüsing Johannes, Klein-Hitpass Ludger, Claussen Uwe, Michel Susanne, Lich Christina, Gillessen-Kaesbach Gabriele, Buiting Karin
Abstract excerpt
Although uniparental disomy often results from the postzygotic rescue of a meiotic non-disjunction event, mosaicism is usually confined to the placenta. We describe a girl with Prader-Willi syndrome (PWS) who is mosaic for normal cells and cells with maternal uniparental disomy 15 [upd(15)mat] in blood and skin. Somatic mosaicism was confirmed by cloning and genotyping of skin fibroblasts. X inactivation studies...
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