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[1780例自然流产的细胞遗传学研究]

[Cytogenetic study of 1780 cases of spontaneous abortion].

作者信息

Qian Wei-Ping, Tan Yu-Mei, Song Dan, Tan Yue-Qiu, Lu Guang-Xiu

机构信息

Reproductive Medical Center, Luohu Hospital, Shenzhen 518001, China.

出版信息

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2005 Jun;30(3):258-60.

Abstract

OBJECTIVE

To explore the relationship between chromosome anomaly and spontaneous abortion, and to provide useful information for genetic counseling and prenatal diagnosis in reproductive clinic.

METHODS

A total of 1 780 patients who had a history of spontaneous abortion before 24 weeks of gestation were enrolled. The lymphocyte culture and harvest were performed according to standard methods. Karyotypes were analyzed by G-banding in all cases and C- banding in some cases in addition.

RESULTS

Altogether 57 abnormal karyotypes were found and the overall incidence of chromosomal abnormalities was 3.20% (women 3.32%; men 2.12%). Among them 23 cases were the balanced translocation; 14 cases were the Robertsonian translocation, 3 cases were the complex chromosomal rearrangement, and the other 17 cases were the other abnormalities. In women with 1, 2, 3 or more spontaneous abortion, the incidence of chromosomal abnormalities was 1.7%, 2.3%, and 5.8%, respectively.

CONCLUSION

Translocations are the major abnormal karyotpes associated with spontaneous abortions. The chance of finding chromosomal aberration increases with the number of abortions. Chromosomal abnormalities are more common in women with 3 or more spontaneous abortions.

摘要

目的

探讨染色体异常与自然流产之间的关系,为生殖门诊的遗传咨询和产前诊断提供有用信息。

方法

纳入1780例妊娠24周前有自然流产史的患者。按照标准方法进行淋巴细胞培养和收获。所有病例均采用G显带分析核型,部分病例还采用C显带分析。

结果

共发现57例异常核型,染色体异常的总发生率为3.20%(女性为3.32%;男性为2.12%)。其中23例为平衡易位;14例为罗伯逊易位,3例为复杂染色体重排,其他17例为其他异常。在有1次、2次、3次或更多次自然流产的女性中,染色体异常的发生率分别为1.7%、2.3%和5.8%。

结论

易位是与自然流产相关的主要异常核型。发现染色体畸变的几率随流产次数增加而增加。染色体异常在有3次或更多次自然流产的女性中更为常见。

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