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Rapid antibody test for prenatal diagnosis of fragile X syndrome on amniotic fluid cells: a new appraisal.
  1. R Willemsen,
  2. F Los,
  3. S Mohkamsing,
  4. A van den Ouweland,
  5. W Deelen,
  6. H Galjaard,
  7. B Oostra
  1. MGC-Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands.


    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.

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