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,
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 in a boy with a balanced 3;21 translocation
β 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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π SIMILAR VOLUMES
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
We present a prenatal predictive diagnosis of Prader-Willi syndrome arising as a result of maternal heterodisomy for chromosome 15. The diagnosis arose following chorionic villus sampling which showed a mosaic trisomy 15 karyotype with a chromosomally normal follow-up amniocentesis. Molecular studie
Maternal uniparental disomy (UPD) for chromosome 15 is responsible for an estimated 30% of cases of Prader-Willi syndrome (PWS). We report on an unusual case of maternal disomy 15 in PWS that is most consistent with adjacent-1 segregation of a paternal t(3;15)(p25;q11.2) with simultaneous maternal m