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Interstitial 15q deletion without a classic Prader-Willi phenotype

✍ Scribed by Galán, Francisco ;Aguilar, María Soledad ;González, Juan ;Clemente, Fernando ;Sánchez, Rafael ;Tapia, Manuel ;Moya, Manuel


Publisher
John Wiley and Sons
Year
1991
Tongue
English
Weight
256 KB
Volume
38
Category
Article
ISSN
0148-7299

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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