title: Rapid antibody test for prenatal diagnosis of fragile X syndrome on amniotic fluid cells: a new appraisal.
abstract: Fragile X syndrome is caused by mutations in the FMR1 gene and is one of the most frequent forms of inherited mental retardation in males. Postnatal and prenatal diagnosis of fragile X syndrome is feasible by direct DNA analysis. A new approach to prenatal diagnosis of fragile X syndrome in amniotic fluid cells is described, using a rapid and simple antibody test on uncultured amniotic fluid cells. The test requires 1 ml of amniotic fluid and the results of this antibody test are available on the same day as the amniocentesis.
authors.affiliation: MGC-Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands.
authors.forename: R
authors.initials: R
authors.lastname: Willemsen
authors.forename: F
authors.initials: F
authors.lastname: Los
authors.forename: S
authors.initials: S
authors.lastname: Mohkamsing
authors.forename: A
authors.initials: A
authors.lastname: van den Ouweland
authors.forename: W
authors.initials: W
authors.lastname: Deelen
authors.forename: H
authors.initials: H
authors.lastname: Galjaard
authors.forename: B
authors.initials: B
authors.lastname: Oostra
mesh_terms: D000649:Amniocentesis; D000653:Amniotic Fluid / Q000737:chemistry* / Q000166:cytology; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000175:diagnosis*; D006801:Humans; D007118:Immunoassay / Q000379:methods*; D008297:Male; D009030:Mosaicism; D009419:Nerve Tissue Proteins / Q000032:analysis* / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D016601:RNA-Binding Proteins
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human