Premature ovarian failure and fragile X premutation: a study on 45 women

被引：38

作者：

Bussani, C ^{[1
]}

Papi, L

Sestini, R

Baldinotti, F

Bucciantini, S

Bruni, V

Scarselli, G

机构：

[1] Univ Florence, Dept Gynecol Perinatol & Human Reprod, Florence, Italy

[2] Univ Florence, Dept Clin Physiopathol, Med Genet Unit, Florence, Italy

[3] Santa Chiara Hosp, Cytogenet & Mol Genet Unit, Pisa, Italy

来源：

EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY | 2004年 / 112卷 / 02期

关键词：

premature ovarian failure (POF); fragile X;

D O I：

10.1016/j.ejogrb.2003.06.003

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Objective: The aim of this study was to test for the presence of the fragile X (FRAXA) premutation a group of women with early menopause. Study design: 45 women with idiopathic premature ovarian failure (POF), five with a familial and 40 with a sporadic form, were screened for the presence of FRAXA premutation. A control group of 28 women > 45 years, with one or more children and no signs of POF, was also studied. Results: We found three cases of fragile X premutations in women all belonging to the group with sporadic POF. Conclusion: Our results seems to confirm previous observations on the non random association between POF and FRAXA premutation. (C) 2003 Elsevier Ireland Ltd. All rights reserved.

引用

页码：189 / 191

页数：3

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