A total of 167 patients with Prader-Willi syndrome (PWS) was studied at the clinical and molecular level. Diagnosis was confirmed by the PW71 methylation test. Quantitative Southern blot hybridizations with a probe for the small nuclear ribonucleoprotein N were performed to distinguish between patie
Molecular study of the Prader-Willi syndrome: Deletion, RFLP, and phenotype analyses of 50 patients
β Scribed by Hamabe, Jun-Ichi ;Fukushima, Yoshimitsu ;Harada, Naoki ;Abe, Kyohko ;Matsuo, Nobutake ;Nagai, Toshiro ;Yoshioka, Akira ;Tonoki, Hidefumi ;Tsukino, Ryuichi ;Niikawa, Norio
- Publisher
- John Wiley and Sons
- Year
- 1991
- Tongue
- English
- Weight
- 936 KB
- Volume
- 41
- Category
- Article
- ISSN
- 0148-7299
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Prader-Willi syndrome (PWS) is a complex multiple anomaly syndrome that has been shown to result from deficient expression of paternal chromosome 15(q11-q13). In most cases, it is caused either by deletion of this region in the paternally inherited chromosome 15 or by maternal uniparental disomy (UP
## 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
The small nuclear ribonucleoprotein polypeptide N (SNRPN) gene is regarded as one of the candidates for Prader-Willi syndrome (PWS). We describe two sibs with typical PWS presenting deletion of SNRPN detected by fluorescence in situ hybridization (FISH). Neither a cytogenetically detectable 15q12 de