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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 explore the cytogenetics of primary amenorrhea phenotype. Methods: Chromosomal karyotypes were analyzed in 25 patients with primary amenorrhea phenotype by conventional chromosomal karyotyping and FISH, C-band and Q-band techniques. Results: Of the 25 cases of primary amenorrhea phenotype, 18 cases were abnormal in karyotype, accounting for 72.0%. Abnormal karyotype cases were: 45 cases, X8 cases, 46 cases, XY cases, 1 arm arm X cases, 4 cases of chimerism karyotypes (45, X cell lines with different structural abnormalities ), One case of absence of the long arm of X, and two cases of X-autosomal translocation. In addition to these 18 cases of abnormal karyotype patients, there are 7 cases of congenital absence of uterus, vaginal primary amenorrhea patients did not detect abnormal karyotype. CONCLUSION: The number of X chromosomes and X structure are abnormal. The chimera karyotype, XY dysplasia (DSD) and X-autosomal translocation may be caused by the number of X chromosomes in the cell lines with structural abnormalities Primary amenorrhea phenotype. Conventional G-banding techniques combined with C-banding, Q-banding and FISH techniques can help to further confirm karyotypes accurately.