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Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint

✍ Scribed by Schulze, Astrid; Hansen, Claus; Skakkebæk, Niels Erik; Brøndum-Nielsen, Karen; Ledbetter, David H.; Tommerup, Niels


Book ID
109915739
Publisher
Nature Publishing Group
Year
1996
Tongue
English
Weight
407 KB
Volume
12
Category
Article
ISSN
1061-4036

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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