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A patient with Prader-Willi syndrome and a supernumerary marker chromosome r(15)(q11.1-13p11.1)pat and maternal heterodisomy

✍ Scribed by Werner, Marion ;Ben-Neriah, Ziva ;silverstein, Shira ;Lerer, Israela ;Dagan, Yudith ;Abeliovich, Dvorah


Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
147 KB
Volume
129A
Category
Article
ISSN
0148-7299

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Maternal disomy and Prader-Willi syndrom
✍ Park, Jonathan P.; Moeschler, John B.; Hani, Valerie H.; Hawk, Arnold B.; Bellon πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 28 KB πŸ‘ 2 views

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