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Prenatal diagnosis of 30 fetuses at risk for fragile X syndrome

✍ Scribed by Grasso, M.; Perroni, L.; Colella, S.; Piombo, G.; Argusti, A.; Lituania, M.; Buscaglia, M.; Giussani, U.; Grimoldi, M. G.; Bricarelli, F. Dagna

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 29 KB
Volume: 64
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19960712)64:1<187::aid-ajmg33>3.0.co;2-h

No coin nor oath required. For personal study only.

✦ Synopsis

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 terminated. For 1 diagnosis, linkage analysis was used: the female fetus turned out to be normal. In 24 fetuses, the direct analysis of the mutation by StB12.3 probe was performed: 6 female and 3 male fetuses were found to carry a full mutation and 1 female fetus was found to carry a premutation. In 3 cases, the diagnoses were verified on fetal blood samples. Several tissues of 2 aborted male fetuses were analyzed for the fragile X mutation. The results are reported and discussed.

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