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Neonatal diagnosis of Prader-Willi syndrome and its implications

✍ Scribed by Greenberg, Frank ;Elder, Fred F. B. ;Opitz, John M. ;Reynolds, James F. ;Ledbetter, David H.


Publisher
John Wiley and Sons
Year
1987
Tongue
English
Weight
625 KB
Volume
28
Category
Article
ISSN
0148-7299

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Sporadic cases of Prader-Willi syndrome (PWS) are associated with the physical absence of the paternal Prader-Willi chromosome region (PWCR) by deletion 15q11-13, by segmental maternal heterodisomy or by chromosome rearrangements resulting in homozygosity for maternal PWCR. In isolated/familial case