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.

Prenatal diagnosis of 30 fetuses at risk for fragile X syndrome / M. Grasso, L. Perroni, S. Colella, G. Piombo, A. Argusti, M. Lituania, M. Buscaglia, U. Giussani, M.G. Grimoldi, F.D. Bricarelli. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. - ISSN 0148-7299. - 64:1(1996 Jul 12), pp. 187-190. [10.1002/(SICI)1096-8628(19960712)64:1<187::AID-AJMG33>3.0.CO;2-H]

Prenatal diagnosis of 30 fetuses at risk for fragile X syndrome

M.G. Grimoldi
Penultimo
;
1996-07-12

Abstract

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.
prenatal diagnosis ; fragile X syndrome
Settore MED/08 - Anatomia Patologica
http://onlinelibrary.wiley.com/doi/10.1002/(SICI)1096-8628(19960712)64:1%3C187::AID-AJMG33%3E3.0.CO;2-H/pdf
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/206421
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