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Atypical presentation of the Prader–Willi syndrome. Mosaic Trisomy 15?

✍ Scribed by Annick Vogels; Maureen Holvoet; Mie-Jef Descheemaeker; Jean-Pierre Fryns; Koen Devriendt

Book ID
113987281
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
84 KB
Volume
45
Category
Article
ISSN
0003-3995

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Third Prader-Willi syndrome phenotype due to maternal uniparental disomy 15 with mosaic trisomy 15
✍ Olander, Erika ;Stamberg, Judith ;Steinberg, Lisa ;Wulfsberg, Eric A. 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 85 KB 👁 3 views

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,