常州地区闭经患者细胞遗传学分布特点

目的：探讨常州地区闭经患者细胞遗传学分布情况。方法：按常规染色体核型分析方法进行外周血染色体核型分析。结果：201例闭经患者进行了细胞遗传学检查,发现59例异常,占29.4%,原发闭经55例,继发闭经4例。其中X染色体数目异常26例,占44.1%;单纯X染色体结构异常16例,占27.1%;出现Y染色体12例,占20.3%;X合并常染色体结构异常4例,占6.8%;常染色体异常1例,占1.7%。结论：原发性闭经与染色体异常密切相关,细胞遗传学检查有助于明确病因、有效治疗。

Cytogenetic study of Amenorrhea cases in Changzhou area

Objective：To investigate the distribution and the characteristics of karyotypes in amenorrhea patients in Changzhou city.Methods：Cytogenetic karyotyping analysis was carried out routinely.Results：During 1996 to 2009,201 cases of amenorrhea were per-formed karyotyping analysis.59 cases were found abnormal,the rate was 29.4%.Among them,26 cases were the X-chromosome number abnormalities （44.1%）;16 cases were simple X chromosome structural abnormalities （27.1%）;12 cases were superfluous Y chromosome （20.3%）;4 cases were combined X chromosome structural abnormalities（6.8%）;just 1 case was autosomal exception（1.7%）.Conclusion：Amenorrhea,in particular,primary amenorrhea is closely related with chromosomal abnormalities.Cytogenetic examination had advantages of clarifying the causes and effective treatment.