厦门地区69例原发闭经患者的染色体核型分析  

Analysis of chromosomal karyotyp in 69 patients with primary amenorrhea in Xiamen

作　　者：刘芳[1] 史彩虹[1] 王厚照[1] 周友泉[1] 

机构地区：[1]解放军第174医院检验科遗传室,福建厦门361003

出　　处：《临床军医杂志》2012年第6期1467-1470,共4页Clinical Journal of Medical Officers

摘　　要：目的探讨厦门地区原发性闭经患者各种异常染色体核型的分布情况及其有关临床体征和意义。方法采用外周血淋巴细胞染色体培养技术进行染色体核型分析。结果 69例原发闭经患者共检出染色体异常28例,异常检出率为40.6%,其中X染色体数目异常8例,占28.6%;X染色体数目异常及嵌合体6例,占21.4%;X染色体结构异常5例,占17.9%;X染色体结构异常及嵌合体3例,占10.7%;染色体倒位3例,占10.7%;性反转2例,占7.1%;与常染色体易位1例,占3.6%。结论染色体异常是导致原发性闭经的主要病因之一,对原发闭经患者进行细胞遗传学检查,对确定其病因及治疗方案具有重要意义。Objective To explore the distribution of abnormal chromosome karyotype in patients with primary amenorrhea in Xiamen area and its clinical signs and significance. Methods Karyotype analysis was performed by peripheral blood lymphocyte chromosomal culture techniques. Results In total 69 patients with primary amenorrhea,there were 28 cases of chromosomal abnormalities,abnormal detection rate was 40.6%,of which the X chromosomes number abnormalities in 8 cases,accounting for 28.6%;number abnormalities and chimera in 6 cases,accounting for 21.4%;structural abnormalities in 5 cases,accounting for 17.9%;structural abnormalities and chimera in 3 cases,accounting for 10.7%;chromosome inversion in 3 cases,accounting for 10.7%;sex-reversed in 2 cases,accounting for 7.1%;autosomal translocation in 1 case,accounting for 3.6%. Conclusion Chromosomal abnormality is one of the major causes of primary amenorrhea,cytogenetic examination in primary amenorrhea patients is important to determine its causes and treatment options.

关 键 词：原发性闭经 染色体异常 染色体核型分析 

分 类 号：R711.51[医药卫生—妇产科学]