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A familial deletion in the Prader-Willi syndrome region including the imprinting control region

✍ Scribed by Simone Schuffenhauer; Tina Buchholz; Sabine Stengel-Rutkowski; Karin Buiting; Heinrich Schmidt; Thomas Meitinger


Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
500 KB
Volume
8
Category
Article
ISSN
1059-7794

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✦ Synopsis


Communicated by Jiirgen Hunt

RFLP. Gene Dosage, and CA Repeat Analysis

Thirteen loci in the PWS/AS chromosomal region were investigated by gene dosage, RFLP, or


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Familial translocation t(Y;15)(q12;p11)
✍ Eliez, Stephan; Morris, Michael A.; Dahoun-Hadorn, Sophie; DeLozier-Blanchet, C. πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 351 KB πŸ‘ 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