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An insertion/deletion polymorphism at the D15S63 locus in the critical Prader-Willi syndrome region in 15q11-13

✍ Scribed by Bärbel Dittrich; Karin Bulling; Stephanie Groß; Bernhard Horsthemke


Publisher
Springer
Year
1994
Tongue
English
Weight
157 KB
Volume
94
Category
Article
ISSN
0340-6717

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Familial translocation t(Y;15)(q12;p11)
✍ Eliez, Stephan; Morris, Michael A.; Dahoun-Hadorn, Sophie; DeLozier-Blanchet, C. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 351 KB 👁 1 views

We describe a 17-year-old girl with mild Prader-Willi syndrome (PWS) due to 15q11-q13 deletion. The deletion occurred on a paternal chromosome 15 already involved in a translocation, t(Y;15)(q12;p11), the latter being present in five other, phenotypically normal individuals in three generations. Thi