Preimplantation diagnosis for fragile X syndrome based on the detection of the non-expanded paternal and maternal CGG
✍ Scribed by K. Sermon; S. Seneca; A. Vanderfaeillie; W. Lissens; H. Joris; M. Vandervorst; A. Van Steirteghem; I. Liebaers
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 126 KB
- Volume
- 19
- Category
- Article
- ISSN
- 0197-3851
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✦ Synopsis
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.