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Preimplantation diagnosis for fragile X syndrome based on the detection of the non‐expanded paternal and maternal CGG
Author(s) -
Sermon K.,
Seneca S.,
Vanderfaeillie A.,
Lissens W.,
Joris H.,
Vandervorst M.,
Van Steirteghem A.,
Liebaers I.
Publication year - 1999
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199912)19:13<1223::aid-pd724>3.0.co;2-0
Subject(s) - fragile x syndrome , fragile x , medicine , obstetrics , pediatrics , genetics , biology , gene
Fragile X syndrome is the most common monogenic cause of mental retardation in boys. It is always characterized clinically by moderate mental retardation and often by a long face with large everted ears and macro‐orchidism. The causal mutation is an expansion of a CGG triplet repeat in a 5′ exon of the FMR ‐1 gene in Xq27.3. We report here for the first time a method for preimplantation genetic diagnosis (PGD) for fragile X syndrome based on the amplification of the CGG triplet in the normal allele. Our candidate–patient population, as well as two clinical preimplantation genetic diagnosis (PGD) cycles which led to a pregnancy with an unaffected fetus, are presented in this paper. Copyright © 1999 John Wiley & Sons, Ltd.