Prenatal diagnosis of fragile X syndrome
β Scribed by R Willemsen; JC Oosterwijk; FJ Los; H Galjaard; BA Oostra
- Book ID
- 118552463
- Publisher
- The Lancet
- Year
- 1996
- Tongue
- English
- Weight
- 194 KB
- Volume
- 348
- Category
- Article
- ISSN
- 0140-6736
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
## Abstract Since 1985, we have provided coordinated DNAβbased and cytogenetic prenatal analysis for couples at risk for offspring afflicted with the fragile X [fra(X)] syndrome. To date, 40 pregnancies have been studied (22 males, 18 females). There were 5 males and 3 females identified to be at h
Prenatal diagnosis of fragile X syndrome requires detection of the full FMR1 mutation in chorionic villus or amniotic fluid cell samples. Although analysis of genomic DNA restriction fragment pattern is a highly reliable technique for identification of the full FMR1 mutation, standard Southern blot
The results of 30 prenatal diagnoses for fragile X syndrome are reported. Amniotic fluid cells were examined in 1 case, fetal blood in 4, and chorionic villi samples in the others. Of the 5 fetuses analyzed by cytogenetic methods, 1 had showed 4% of fraXq27.3 expression sites and the pregnancy was t