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Duplication of proximal 15q as a cause of Prader-Willi syndrome

✍ Scribed by Pettigrew, Anjana L. ;Gollin, Susanne M. ;Greenberg, Frank ;Riccardi, Vincent M. ;Ledbetter, David H. ;Opitz, John M. ;Reynolds, James F.

Publisher: John Wiley and Sons
Year: 1987
Tongue: English
Weight: 628 KB
Volume: 28
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320280403

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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