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目的分析福建地区原发性闭经患者的细胞遗传学特征,探讨性染色体异常对性腺发育和临床表现的影响。方法对128例原发性闭经患者进行外周血淋巴细胞染色体培养并进行分析。结果 128例原发性闭经患者中检出染色体正常核型86例,占67.19%,异常核型42例,占32.81%,其中包括性染色体数目异常16例、结构异常4例、嵌合体7例以及性反转15例。结论性染色体异常是闭经的主要原因之一;原发性闭经患者的染色体检查对明确病因并进行治疗具有重要意义。
Objective To analyze the cytogenetic features of patients with primary amenorrhea in Fujian and to explore the effect of sex chromosome abnormalities on the development of gonadal and clinical manifestations. Methods 128 cases of primary amenorrhea patients with peripheral blood lymphocyte chromosome culture and analysis. Results A total of 128 cases of primary amenorrhea were detected in 86 cases of normal karyotype, accounting for 67.19%. There were 42 cases (32.81%) of abnormal karyotype, including 16 cases of abnormal sex chromosome number, 4 cases of abnormal structure, 7 cases of chimerism And 15 cases of sexual inversion. Conclusions Sexual chromosomal abnormalities are one of the major causes of amenorrhea. Chromosomal examination in patients with primary amenorrhea is of great importance to clarifying the cause and treating it.