原发闭经表型的细胞遗传学病因研究  

Cytogenetic Investigation of Primary Amenorrhea Phenotype

作　　者：曾寰 陈小苑[2] 孔辉 韩璐[3] 吴琼 吴慧南 沈艳艳 陈佳燕 江雨 周裕林 

机构地区：[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

出　　处：《生殖与避孕》2011年第3期162-169,共8页Reproduction and Contraception

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。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 cases of 46,XY,1 case of i（X）（q10）,1 case of X long arm terminal deletion,2 cases of X-autosome balanced translocation,as well as 4 cases of mosaics,all were 45,X cell line and 46 cell lines with 4 diferent kinds of sex chromosomes structure abnormalities mosaicism.The rest 7 females with no uterus and no vagina in congenital,were detected karyotypely normal.Conclusion： X monosome,X structural anomalies,X monosome cell strain and structural anomalies cell strain mosaic,and 46,XY disorder of sex development（DSD）,X-autosome reciprocal translocation are responsible for 18 patients？primary amenorrhea phenotype,individually.FISH,C-banding and,Q-banding techniques in addition to G-banding methods are very useful techniques in accurate diagnosis of the karyotypes of primary amenorrhea patients.

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 

分 类 号：R711.51[医药卫生—妇产科学]