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Recent experience in prenatal diagnosis of fragile X

✍ Scribed by Howard-Peebles, Patricia N. ;Maddalena, Anne

Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
301 KB
Volume
43
Category
Article
ISSN
0148-7299

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## Abstract Prenatal diagnosis was performed in 81 cases at risk for the fragile X syndrome. There were 12 fra (X)‐positive cases, two of which showed low expression in cultured amniotic fluid cells. FUdR and high thymidine were used for induction of fra(X) (q27.3) expression in all cases. In 21 ca

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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