Prenatal diagnosis of 30 fetuses at risk for fragile X syndrome

被引：0

作者：

Grasso, M

Perroni, L

Colella, S

Piombo, G

Argusti, A

Lituania, M

Buscaglia, M

Giussani, U

Grimoldi, MG

Bricarelli, FD

机构：

[1] EO OSPED GALLIERA,CTR GENET UMANA,I-16128 GENOA,ITALY

[2] AO SANTA CORONA,DIV OSTET & GINECOL,PIETRA LIGURE,ITALY

[3] UNIV MILAN,OSPED SAN PAOLO,IST SCI BIOMED,MILAN,ITALY

[4] OSPED RIUNITI BERGAMO,SEZ CITOGENET,SIT,I-24100 BERGAMO,ITALY

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1996年 / 64卷 / 01期

关键词：

prenatal diagnosis; fragile X syndrome;

D O I：

暂无

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. (C) 1996 Wiley-Liss, Inc.

引用

页码：187 / 190

页数：4

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