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Molecular and cytogenetic analyses of a patient with Prader-Willi syndrome who also had the phenotype of Angelman syndrome

✍ Scribed by Miyako, Kenichi; Kawano, Atsuko; Mushimoto, Yuichi


Book ID
121617405
Publisher
BioMed Central
Year
2013
Tongue
English
Weight
330 KB
Volume
2013
Category
Article
ISSN
1687-9848

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Recent studies have identified a new class of Prader-Willi syndrome (PWS) and Angelman syndrome (AS) patients who have biparental inheritance, but neither the typical deletion nor uniparental disomy (UPD) or translocation. However, these patients have uniparental DNA methylation throughout 15q11-q13

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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