Deletion of chromosome 15pter→q11.2 due to t(Y;15) in a boy with Prader-Willi syndrome
✍ Scribed by Qumsiyeh, Mazin B. ;Dalton, James D. ;Gordon, Patricia L. ;Wilroy, R. Sid ;Tharapel, Avirachan T.
- Publisher
- John Wiley and Sons
- Year
- 1992
- Tongue
- English
- Weight
- 276 KB
- Volume
- 42
- Category
- Article
- ISSN
- 0148-7299
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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
The small nuclear ribonucleoprotein polypeptide N (SNRPN) gene is regarded as one of the candidates for Prader-Willi syndrome (PWS). We describe two sibs with typical PWS presenting deletion of SNRPN detected by fluorescence in situ hybridization (FISH). Neither a cytogenetically detectable 15q12 de
We present a prenatal predictive diagnosis of Prader-Willi syndrome arising as a result of maternal heterodisomy for chromosome 15. The diagnosis arose following chorionic villus sampling which showed a mosaic trisomy 15 karyotype with a chromosomally normal follow-up amniocentesis. Molecular studie