Boy with 47,XXY,del(15)(q11.2q13) karyotype and Prader-Willi syndrome: A new case and review of the literature

Maternal disomy and Prader-Willi syndrom

Maternal disomy and Prader-Willi syndrome consistent with gamete complementation in a case of familial translocation (3;15) (p25;q11.2)

✍ Park, Jonathan P.; Moeschler, John B.; Hani, Valerie H.; Hawk, Arnold B.; Bellon 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 28 KB 👁 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