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,
β¦ LIBER β¦
Maternal Uniparental Disomy 14 Syndrome Demonstrates Prader-Willi Syndrome-Like Phenotype
β Scribed by Kana Hosoki; Masayo Kagami; Touju Tanaka; Masaya Kubota; Kenji Kurosawa; Mitsuhiro Kato; Kimiaki Uetake; Jun Tohyama; Tsutomu Ogata; Shinji Saitoh
- Book ID
- 113745451
- Publisher
- Elsevier Science
- Year
- 2009
- Tongue
- English
- Weight
- 281 KB
- Volume
- 155
- Category
- Article
- ISSN
- 1097-6833
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