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| 原发闭经表型的细胞遗传学病因研究 | |
| 引用本文： | 曾寰,陈小苑,孔辉,韩璐,吴琼,吴慧南,沈艳艳,陈佳燕,江雨,周裕林.原发闭经表型的细胞遗传学病因研究[J].生殖与避孕,2011,31(3):162-169. |
| 作者姓名： | 曾寰 陈小苑 孔辉 韩璐 吴琼 吴慧南 沈艳艳 陈佳燕 江雨 周裕林 |
| 作者单位： | 1. 厦门市妇幼保健院遗传室,厦门,361003 2. 厦门市第二医院妇科,厦门,361003 3. 厦门市第一医院检验科,厦门,361003 |
| 摘 要： | 目的:探讨原发闭经表型的细胞遗传学病因。方法:运用常规的染色体核型分析技术及FISH、C-带和Q-带技术,分析25例原发闭经表型患者的染色体核型。结果:25例原发闭经表型病例中,18例核型异常,占72.0%。异常核型病例分别为:45,X 8例、46,XY 2例,等臂X 1例、嵌合核型4例(分别为45,X细胞系与不同的结构异常性染色体细胞系的嵌合体)、X长臂末端缺失1例、X-常染色体平衡易位2例。除这18例异常核型患者外,尚有7例为先天性无子宫、无阴道的原发闭经患者未检出核型异常。结论:X染色体数目单体、X结构异常、X染色体数目单体细胞系与结构异常性染色体细胞系的嵌合体核型、XY性发育异常(DSD)、X-常染色体平衡易位都可导致原发闭经表型。常规G-显带技术与C-带、Q-带技术及FISH技术相互结合,有助于进一步准确诊断核型。 |
| 关 键 词： | 原发闭经表型 染色体核型 细胞遗传学 分子-细胞遗传学 FISH 病因学 |
Cytogenetic Investigation of Primary Amenorrhea Phenotype |
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| Huan ZENG,Xiao-yuan CHEN,Hui KONG,Lu HAN,Qiong WU,Hui-nan WU,Yan-yan SHEN,Jia-yan CHEN,Yu JIANG,Yu-lin ZHOU.Cytogenetic Investigation of Primary Amenorrhea Phenotype[J].Reproduction and Contraception,2011,31(3):162-169. | |
| Authors: | Huan ZENG Xiao-yuan CHEN Hui KONG Lu HAN Qiong WU Hui-nan WU Yan-yan SHEN Jia-yan CHEN Yu JIANG Yu-lin ZHOU |
| Institution: | Huan ZENG1,Xiao-yuan CHEN2,Hui KONG1,Lu HAN3,Qiong WU1,Hui-nan WU1,Yan-yan SHEN1,Jia-yan CHEN1,Yu JIANG1,Yu-lin ZHOU1 (1.Genetic Laboratory Xiamen's Maternal & Child Health Care Hospital,Xiamen,361003)(2.Gynecologic Department,The Second General Hospital of Xiamen,361003)(3.Clinical Department,The First General Hospital of Xiamen,361003) |
| Abstract: | Objective: To investigate the cytogengetic etiology of primary amenorrhea phenotype.Methods: Regular G-banding karyotyping methods,fluorescence in situ hybridization(FISH),C-banding and Q-banding techniques were applied to analyze to verify the peripheral blood lymphocytes chromosomes and their abnormities of 25 primary amenorrhea patients.Results: Eighteen out of total 25 primary amenorrhea patients were karyotype abnormal.That was 72.0%.All the chromosome abnormalities patients included 8 cases of 45,X,2 ... |
| Keywords: | primary amenorrhea phenotype karyotyping cytogenetics molecular-cytogenetics FISH(fluoresce in situ hybridization) etiology |
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