PT  - JOURNAL ARTICLE
AU  - R Willemsen
AU  - F Los
AU  - S Mohkamsing
AU  - A van den Ouweland
AU  - W Deelen
AU  - H Galjaard
AU  - B Oostra
TI  - Rapid antibody test for prenatal diagnosis of fragile X syndrome on amniotic fluid cells: a new appraisal.
AID  - 10.1136/jmg.34.3.250
DP  - 1997 Mar 01
TA  - Journal of Medical Genetics
PG  - 250--251
VI  - 34
IP  - 3
4099  - http://jmg.bmj.com/content/34/3/250.short
4100  - http://jmg.bmj.com/content/34/3/250.full
SO  - J Med Genet1997 Mar 01; 34
AB  - 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.