Prader-Willi- und Angelman-Syndrom
✍ Scribed by Lerch, N. ;Bösch, N. ;Müller, Hj. ;Malik, N. J.
- Publisher
- Springer
- Year
- 2000
- Tongue
- German
- Weight
- 182 KB
- Volume
- 148
- Category
- Article
- ISSN
- 0026-9298
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Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are clinically distinct complex disorders mapped to chromosome 15q11-q13. They both have characteristic neurologic, developmental, and behavioral phenotypes plus other structural and functional abnormalities. However, the cognitive and neurologi
W e report on a combined high resolution cytogenetic and fluorescent in situ hybridization study (FISH) on 15 Prader-Willi syndrome (PWS) and 14 Angelman syndrome (AS) patients. High resolution banding showed a microdeletion in the 15qll-q13 region in 7 out of 15 PWS patients, and FISH analysis of t