Rapid antibody test for prenatal diagnosis of fragile X syndrome on amniotic fluid cells: a new appraisal.
Open Access
- 1 March 1997
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 34 (3) , 250-251
- https://doi.org/10.1136/jmg.34.3.250
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.Keywords
This publication has 8 references indexed in Scilit:
- Prenatal diagnosis of fragile X syndromeThe Lancet, 1996
- Rapid antibody test for fragile X syndromeThe Lancet, 1995
- Characterization and localization of the FMR-1 gene product associated with fragile X syndromeNature, 1993
- Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation.Journal of Medical Genetics, 1993
- Methylation analysis of CGG sites in the CpG island of the human FMR1 geneHuman Molecular Genetics, 1992
- Intragenic probe used for diagnostics in fragile X familiesAmerican Journal of Medical Genetics, 1992
- Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental RetardationNew England Journal of Medicine, 1991
- Absence of expression of the FMR-1 gene in fragile X syndromeCell, 1991