Prenatal diagnosis of fragile X and Turner mosaicism in a 12-week fetus
โ Scribed by Helen Wilkin; Jeremy Tuohy; Wilhelmina Theewis
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 61 KB
- Volume
- 20
- Category
- Article
- ISSN
- 0197-3851
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Hypochondroplasia (HCH) is caused by mutations in the fibroblast growth factor receptor type 3 (FGFR 3). Prenatal diagnosis of HCH based exclusively on the sonographic measurements of the fetal skeleton is difficult and has not been reported. We describe a newborn infant with HCH who was born to a m
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