PRADER-WILLI SYNDROME AND PRENATAL DIAGNOSIS
✍ Scribed by Emanuel, Mary; Mak, Ellen; Gryfe, Arthur; Wyatt, Philip
- Book ID
- 123173049
- Publisher
- The Lancet
- Year
- 1983
- Tongue
- English
- Weight
- 116 KB
- Volume
- 322
- Category
- Article
- ISSN
- 0140-6736
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The Angelman (AS) and Prader±Willi syndromes (PWS) are clinically distinct neurobehavioural syndromes resulting from loss of maternal (AS) or paternal contributions (PWS) of imprinted genes within the chromosomal 15q11-q13 region. The molecular diagnosis of both syndromes can be made by a variety of
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
Chorionic villus sampling (CVS) was performed on a 38-year-old woman at 10 weeks' gestation for advanced maternal age. Two long-term cultures showed true mosaicism of cells with a normal karyotype and cells with trisomy 15. Follow-up amniocentesis showed only cells with a normal karyotype. Methylati