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Angelman syndrome and prenatally diagnosed Prader–Willi syndrome in first cousins
Author(s) -
Ranganath Prajnya,
Agarwal Meenal,
Phadke Shubha R.
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.34234
Subject(s) - angelman syndrome , chromosomal translocation , offspring , genomic imprinting , prenatal diagnosis , genetics , pediatrics , medicine , chromosome 15 , pregnancy , psychology , gene , biology , fetus , gene expression , dna methylation
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.