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本文对183例诊断为原发闭经的病人外周血淋巴细胞进行染色体分析,共发现染色体异常90例,占原发闭经病人总数的49.20%(90/183).异常染色体分3类:染色体数目和结构异常68例;46,XX/46,EY嵌合体4例;46,XY女性(睾丸女性化综合征)18例.
In this paper, 183 cases of primary amenorrhea patients with peripheral blood lymphocyte chromosome analysis found a total of 90 cases of chromosomal abnormalities, accounting for 49.20% (90/183) of the total number of primary amenorrhea patients. Abnormal chromosomes were divided into three categories: the number of chromosomes and 68 cases with abnormal structure, 46 cases with XX / 46 and EY chimera and 46 cases with XY female testicular feminization syndrome.