Prader-Willi syndrome (PWS) results from absence of the normally active paternally inherited genes on proximal 15q, due to del(15)(q11q13) or by maternal uniparental disomy (UPD) 15 in most cases. In addition to a higher frequency of hypopigmentation among deletion patients, minor phenotypic differe
Klinefelter and trisomy X syndromes in patients with Prader-Willi syndrome and uniparental maternal disomy of chromosome 15—A coincidence?
✍ Scribed by Butler, Merlin G.; Hedges, Lora K.; Rogan, Peter K.; Seip, James R.; Cassidy, Suzanne B.; Moeschler, John B.
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 13 KB
- Volume
- 72
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19971003)72:1<111::aid-ajmg22>3.0.co;2-t
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