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目的探讨原发性闭经与外周血染色体异常的关系。方法采用常规外周血淋巴细胞培养及制备,G显带染色体核型分析。结果检测193例原发性闭经患者,131例为正常女性核型,占67.88%;异常核型有62例,占32.12%;其中Turner综合征患者有40例,占总数的20.73%,在异常核型中占64.52%。异常包括性染色体数目和结构异常,嵌合体,超雌,性反转,易位,倒位及多态性变异等。结论染色体异常是导致原发性闭经的主要原因,对这些患者进行染色体核型分析及遗传咨询,明确病因,估计预后,及早对症治疗具有十分重要的意义。
Objective To explore the relationship between primary amenorrhea and peripheral chromosomal abnormalities. Methods Conventional peripheral blood lymphocyte culture and preparation, G - banding karyotype analysis. Results 193 cases of primary amenorrhea patients were detected, 131 cases of normal female karyotype, accounting for 67.88%; abnormal karyotype in 62 cases, accounting for 32.12%; Turner syndrome in which 40 cases, accounting for 20.73% of the total number of anomalies Karyotype accounted for 64.52%. Abnormalities include the number of sex chromosomes and structural abnormalities, chimeras, supernatants, sexual inversion, translocation, inversion and polymorphic variation. Conclusion Chromosomal abnormalities are the main cause of primary amenorrhea. It is of great significance for these patients to carry out the karyotype analysis and genetic counseling, to clarify the cause, to estimate the prognosis, and to treat symptomatically early.