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.
|Titolo:||Prenatal diagnosis of 30 fetuses at risk for fragile X syndrome|
GRIMOLDI, MARIA GRAZIA (Penultimo)
|Parole Chiave:||prenatal diagnosis ; fragile X syndrome|
|Settore Scientifico Disciplinare:||Settore MED/08 - Anatomia Patologica|
|Data di pubblicazione:||12-lug-1996|
|Digital Object Identifier (DOI):||10.1002/(SICI)1096-8628(19960712)64:1<187::AID-AJMG33>3.0.CO;2-H|
|Appare nelle tipologie:||01 - Articolo su periodico|