Prenatal diagnosis of fragile X syndrome
β Scribed by Hirst, Mark; Knight, Samantha; Davies, Kay; Cross, Gareth; Ocraft, Kevin; Raeburn, Sandy; Heeger, Shauna; Eunpu, Deborah; Jenkins, EdmundC; Lindenbaum, Richard
- Book ID
- 122847981
- Publisher
- The Lancet
- Year
- 1991
- Tongue
- English
- Weight
- 582 KB
- Volume
- 338
- 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