title: Preimplantation diagnosis for fragile X syndrome based on the detection of the non-expanded paternal and maternal CGG.
abstract: 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.
authors.affiliation: Centre for Medical Genetics, University Hospital and Medical School, Dutch-speaking Brussels Free University, Belgium. lgensnk@az.vub.ac.be
authors.forename: K
authors.initials: K
authors.lastname: Sermon
authors.forename: S
authors.initials: S
authors.lastname: Seneca
authors.forename: A
authors.initials: A
authors.lastname: Vanderfaeillie
authors.forename: W
authors.initials: W
authors.lastname: Lissens
authors.forename: H
authors.initials: H
authors.lastname: Joris
authors.forename: M
authors.initials: M
authors.lastname: Vandervorst
authors.forename: A
authors.initials: A
authors.lastname: Van Steirteghem
authors.forename: I
authors.initials: I
authors.lastname: Liebaers
mesh_terms: D000328:Adult; D001483:Base Sequence; D001757:Blastomeres; D047108:Embryonic Development; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D019836:Preimplantation Diagnosis; D016601:RNA-Binding Proteins; D012091:Repetitive Sequences, Nucleic Acid; D020554:Sperm Injections, Intracytoplasmic
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human