Approaches to the prenatal diagnosis of the Prader-Willi syndrome
โ Scribed by A. Schinzel
- Publisher
- Springer
- Year
- 1986
- Tongue
- English
- Weight
- 117 KB
- Volume
- 74
- Category
- Article
- ISSN
- 0340-6717
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The Angelman (AS) and PraderยฑWilli 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
Bilateral testicular biopsies in an 81/2 year old boy with the Prader-Willi syndrome showed total absence of spermatogonia. Similar findings in postpubertal cases (Wannarachue et al., 1975) suggest that testicular dysplasia is one of the reasons for hypogonadism in males with the Prader-Willi syndro