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Unique maternal deletion of 15q in a patient with some symptoms of Prader-Willi syndrome

✍ Scribed by Shinsuke Ninomiya; Yuji Yokoyama; Masako Kawakami; Tomoka Une; Hidehiko Maruyama; Tsuneo Morishima


Book ID
108971041
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
403 KB
Volume
47
Category
Article
ISSN
1328-8067

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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