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Fraternal twins with Aarskog–Scott syndrome due to maternal germline mosaicism

✍ Scribed by Laura Pilozzi-Edmonds; Thomas A. Maher; Raveen K. Basran; Aubrey Milunsky; Khalid Al-Thihli; Nancy E. Braverman; Ahmed Alfares


Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
586 KB
Volume
155
Category
Article
ISSN
1552-4825

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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,