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Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 in a boy with a balanced 3;21 translocation

✍ Scribed by Bassett, Lori L. ;Michaelis, Ron C. ;Geiger, Mary Holland ;Tarleton, Jack ;Moore, C. Lynn ;Knops, Judith F. ;Carroll, Andrew J. ;Proud, Virginia K.


Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
33 KB
Volume
100
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,

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