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