Prader-Willi syndrome (PWS) is a complex multiple anomaly syndrome that has been shown to result from deficient expression of paternal chromosome 15(q11-q13). In most cases, it is caused either by deletion of this region in the paternally inherited chromosome 15 or by maternal uniparental disomy (UP
Further patient with Angelman syndrome due to paternal disomy of chromosome 15 and a milder phenotype
β Scribed by Gillessen-Kaesbach, Gabriele ;Albrecht, Beate ;Passarge, Eberhard ;Horsthemke, Bernhard
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 252 KB
- Volume
- 56
- Category
- Article
- ISSN
- 0148-7299
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We report on a boy with mosaicism for trisomy 15 and Prader-Willi syndrome (PWS) due to maternal isodisomy for chromosome 15. His phenotype is consistent with PWS and trisomy 15 mosaicism. Although our patient is unusual in having maternal isodisomy rather than the more common maternal heterodisomy,
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