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1p36 deletion syndrome associated with Prader–Willi-like phenotype

✍ Scribed by Yu Tsuyusaki; Hiroshi Yoshihashi; Noritaka Furuya; Masanori Adachi; Hitoshi Osaka; Kayono Yamamoto; Kenji Kurosawa

Book ID
108972955
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
304 KB
Volume
52
Category
Article
ISSN
1328-8067

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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

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Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15
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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