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An interstitial 15q11-q14 deletion: Expanded Prader-Willi syndrome phenotype

✍ Scribed by Merlin G. Butler; Douglas C. Bittel; Nataliya Kibiryeva; Linda D. Cooley; Shihui Yu

Publisher: John Wiley and Sons
Year: 2010
Tongue: English
Weight: 209 KB
Volume: 152A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.33197

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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