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
A case of Prader – Willi syndrome arising as a result of familial unbalanced translocation t(11;15)(q25;q13)
✍ Scribed by Malgorzata Krajewska Walasek; Anna Gutkowska; Beata Bielińska; Bozenna Goryluk-Kozakiewicz; Ewa Popowska
- Book ID
- 110887800
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 996 KB
- Volume
- 54
- Category
- Article
- ISSN
- 0009-9163
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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
We report on a 5-year-old white girl with Prader-Willi syndrome (PWS) and a submicroscopic deletion of 15qllq13 of approximately 100-200 kb in size. High resolution chromosome analysis was normal but fluorescence in situ hybridization (FISH), Southern hybridization, and microsatellite data from the