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R. Magenis, S. Toth-Fejel, L. Allen, M. Black, Michael Brown, S. Budden, R. Cohen, J. Friedman, D. Kalousek, J. Zonana, D. Lacy, S. Lafranchi, M. Lahr, J. Macfarlane, C. Williams (1990)
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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.
American Journal of Medical Genetics Part A – Wiley
Published: Nov 1, 2011
Keywords: ; ; ;
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