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Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1997 Mar;34(3):250–251. doi: 10.1136/jmg.34.3.250

Rapid antibody test for prenatal diagnosis of fragile X syndrome on amniotic fluid cells: a new appraisal.

R Willemsen 1, F Los 1, S Mohkamsing 1, A van den Ouweland 1, W Deelen 1, H Galjaard 1, B Oostra 1
PMCID: PMC1050903  PMID: 9132500

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.

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Selected References

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