Maternal disomy and Prader-Willi syndrom
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Park, Jonathan P.; Moeschler, John B.; Hani, Valerie H.; Hawk, Arnold B.; Bellon
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Article
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1998
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John Wiley and Sons
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English
β 28 KB
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Maternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome (PWS). We report on an unusual case of maternal disomy 15 in PWS that is most consistent with adjacent-1 segregation of a paternal t(3;15)(p25;q11.2) with simultaneous maternal m