Get 20M+ Full-Text Papers For Less Than $1.50/day. Start a 14-Day Trial for You or Your Team.

Learn More →

Angelman syndrome and prenatally diagnosed Prader–Willi syndrome in first cousins

Angelman syndrome and prenatally diagnosed Prader–Willi syndrome in first cousins Prader–Willi syndrome (PWS) and Angelman syndrome (AS) are caused by loss of function of imprinted genes in the 15q11–13 critical region. Reports of PWS and AS in close relatives within the same family are rare. We report on the diagnosis of a familial unbalanced 10;15 translocation causing AS in a child that led to the prenatal diagnosis of an unbalanced 10;15 translocation with resultant deletion of the Prader–Willi critical region in her maternal uncle's offspring. © 2011 Wiley Periodicals, Inc. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Medical Genetics Part A Wiley

Angelman syndrome and prenatally diagnosed Prader–Willi syndrome in first cousins

Loading next page...
 
/lp/wiley/angelman-syndrome-and-prenatally-diagnosed-prader-willi-syndrome-in-C9xcCN80Ts

References (8)

Publisher
Wiley
Copyright
Copyright © 2011 Wiley Subscription Services, Inc., A Wiley Company
ISSN
1552-4825
eISSN
1552-4833
DOI
10.1002/ajmg.a.34234
pmid
21964995
Publisher site
See Article on Publisher Site

Abstract

Prader–Willi syndrome (PWS) and Angelman syndrome (AS) are caused by loss of function of imprinted genes in the 15q11–13 critical region. Reports of PWS and AS in close relatives within the same family are rare. We report on the diagnosis of a familial unbalanced 10;15 translocation causing AS in a child that led to the prenatal diagnosis of an unbalanced 10;15 translocation with resultant deletion of the Prader–Willi critical region in her maternal uncle's offspring. © 2011 Wiley Periodicals, Inc.

Journal

American Journal of Medical Genetics Part AWiley

Published: Nov 1, 2011

Keywords: ; ; ;

There are no references for this article.