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Clinical comparison of 59 Prader-Willi patients with and without the 15(Q12) deletion

✍ Scribed by Wenger, Sharon L. ;Hanchett, Jeanne M. ;Steele, Mark W. ;Maier, Beate V. ;Golden, Wendy L.


Publisher
John Wiley and Sons
Year
1987
Tongue
English
Weight
381 KB
Volume
28
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

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## Abstract Prader–Willi syndrome (PWS) is caused by the disturbed expression of genes from the imprinted region of 15q11‐q13, but the specific contributions of individual genes remain unknown. Most paternal PWS deletions are bracketed by recurrent breakpoints BP1 or BP2 and BP3. Atypical deletions

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We describe a 17-year-old girl with mild Prader-Willi syndrome (PWS) due to 15q11-q13 deletion. The deletion occurred on a paternal chromosome 15 already involved in a translocation, t(Y;15)(q12;p11), the latter being present in five other, phenotypically normal individuals in three generations. Thi

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The small nuclear ribonucleoprotein polypeptide N (SNRPN) gene is regarded as one of the candidates for Prader-Willi syndrome (PWS). We describe two sibs with typical PWS presenting deletion of SNRPN detected by fluorescence in situ hybridization (FISH). Neither a cytogenetically detectable 15q12 de