Validation of a new direct molecular method for diagnosis of fragile X syndrome
✍ Scribed by P. Rouillard; J. Dionne; M. Lemire; R. Réhel; E.W. Khandjian; F. Rousseau
- Publisher
- Elsevier Science
- Year
- 1994
- Tongue
- English
- Weight
- 118 KB
- Volume
- 27
- Category
- Article
- ISSN
- 0009-9120
No coin nor oath required. For personal study only.
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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
## Abstract Since 1985, we have provided coordinated DNA‐based 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