Deletions of proximal 15q without Prader-Willi syndrome
β Scribed by Greenberg, Frank ;Ledbetter, David H. ;Opitz, John M. ;Reynolds, James F.
- Publisher
- John Wiley and Sons
- Year
- 1987
- Tongue
- English
- Weight
- 364 KB
- Volume
- 28
- Category
- Article
- ISSN
- 0148-7299
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## Abstract PraderβWilli syndrome (PWS) is caused by the disturbed expression of genes from the imprinted region of 15q11βq13, but the specific contributions of individual genes remain unknown. Most paternal PWS deletions are bracketed by recurrent breakpoints BP1 or BP2 and BP3. Atypical deletions
We have evaluated fluorescence in situ hybridization (FISH) analysis for the clinical laboratory detection of the 15qll-ql3 deletion seen in Prader-Willi syndrome (PWS) and Angelman syndrome (AS) using probes for loci D15Sl1, SNRPN, D15S10, and GABRB3. In a series of 118 samples from patients referr