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Mosaicism of proximal 15q duplication/deletion resulting in Prader–Willi syndrome with normal methylation

✍ Scribed by Luke Boyd; Michael G. Brown; Stephen Kelson; Helen Lawce; Sarah Shuttleworth; Nancy Unsworth; R. Ellen Magenis

Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
156 KB
Volume
138A
Category
Article
ISSN
1552-4825

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Molecular and clinical characterization of two patients with Prader–Willi syndrome and atypical deletions of proximal chromosome 15q
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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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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