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
Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8
✍ Scribed by Raymonda Varon; Annika Müer; Klaus Wagner; Hannelore Zierler; Sigrun Sodia; Ludwig Rauter; Erwin Petek; Holger Tönnies; Haidemarie Neitzel; Karl Sperling; Peter M. Kroisel
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 167 KB
- Volume
- 143A
- Category
- Article
- ISSN
- 1552-4825
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