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目的:探讨染色体异常在原发性和继发性闭经患者中的核型分布及临床意义。方法:对309例闭经患者进行外周血淋巴细胞培养,常规制片,G显带处理(必要时C显带),染色体核型分析。结果:309例闭经患者中,染色体异常84例,异常率27.18%,主要包括X染色体非整倍体(29例)、X染色体结构异常(10例)、存在Y染色体(14例)及镶嵌体(30例),其中X染色体数目和结构异常68例,占80.95%。结论:染色体异常是闭经的重要原因,无论原发性或继发性闭经,应常规行细胞遗传学检查。
Objective: To investigate the karyotype distribution and clinical significance of chromosomal abnormalities in patients with primary and secondary amenorrhea. Methods: 309 cases of amenorrhea patients were cultured in peripheral blood lymphocytes, routine preparation, G banding (C banding, if necessary), chromosome karyotype analysis. Results: Of the 309 amenorrhea patients, 84 were abnormal in chromosomal abnormality, with an abnormality rate of 27.18%, including X chromosome aneuploidy (29 cases), X chromosome abnormalities (10 cases), Y chromosome (14 cases) and mosaics (30 cases), including 68 cases of X chromosome number and structural abnormalities, accounting for 80.95%. Conclusion: Chromosomal abnormalities are an important cause of amenorrhea. Whether primary or secondary amenorrhea, routine cytogenetic examination should be performed.