title: Prenatal diagnosis of 30 fetuses at risk for fragile X syndrome.
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. The results are reported and discussed.
authors.affiliation: Centro di Genetica Umana, E.O. Ospedali Galliera, Genova, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Grasso
authors.forename: L
authors.initials: L
authors.lastname: Perroni
authors.forename: S
authors.initials: S
authors.lastname: Colella
authors.forename: G
authors.initials: G
authors.lastname: Piombo
authors.forename: A
authors.initials: A
authors.lastname: Argusti
authors.forename: M
authors.initials: M
authors.lastname: Lituania
authors.forename: M
authors.initials: M
authors.lastname: Buscaglia
authors.forename: U
authors.initials: U
authors.lastname: Giussani
authors.forename: M G
authors.initials: MG
authors.lastname: Grimoldi
authors.forename: F D
authors.initials: FD
authors.lastname: Bricarelli
mesh_terms: D015193:Chorionic Villi Sampling; D019175:DNA Methylation; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis