RT Journal Article
SR Electronic
T1 Rapid antibody test for prenatal diagnosis of fragile X syndrome on amniotic fluid cells: a new appraisal.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 250
OP 251
DO 10.1136/jmg.34.3.250
VO 34
IS 3
A1 Willemsen, R
A1 Los, F
A1 Mohkamsing, S
A1 van den Ouweland, A
A1 Deelen, W
A1 Galjaard, H
A1 Oostra, B
YR 1997
UL http://jmg.bmj.com/content/34/3/250.abstract
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.