Parental origin of del(15)(q11-q13) in Angelman and Prader-Willi syndromes
β Scribed by Zori, Roberto ;Williams, Charles ;Mattei, J. F. ;Moncla, Anne
- Publisher
- John Wiley and Sons
- Year
- 1990
- Tongue
- English
- Weight
- 122 KB
- Volume
- 37
- Category
- Article
- ISSN
- 0148-7299
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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
We report on a white man with Prader-Willi syndrome (PWS) and del(15)(q11.2q13), confirmed by fluorescence in situ hybridization (FISH), who had hyperlipidemia, insulindependent diabetes, and the early onset and rapid progression of diabetic retinopathy and nephropathy within 4 years after diagnosis