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目的探讨原发性闭经患者在细胞遗传学水平上的主要特征和发病机制。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 78例原发性闭经患者共检出染色体异常31例,异常检出率为39.74%,主要为46,XY、45,X0嵌合和X染色体数目异常,包括11例46,XY,9例45,X0嵌合,6例45,X0,4例X染色体结构异常。结论染色体异常是导致原发性闭经的重要原因之一,对原发性闭经患者进行细胞遗传学检查对确定病因和治疗方案是非常必要的。
Objective To investigate the main characteristics and pathogenesis of primary amenorrhea patients at cytogenetic level. Methods Chromosome karyotype analysis was performed by using peripheral blood lymphocyte chromosome culture technique. Results Totally 31 cases of chromosomal abnormalities were detected in 78 cases of primary amenorrhea patients. The abnormality rate was 39.74%. The main abnormalities were 46, XY, 45, X0 chimerism and X chromosome abnormalities, including 11 cases of 46, XY, 9 cases 45, X0 chimerism, 6 cases of 45, X0, 4 cases of X chromosome structural abnormalities. Conclusion Chromosomal abnormalities are one of the most important causes of primary amenorrhea. Cytogenetic examination of primary amenorrhea patients is necessary to determine the cause and treatment regimen.