闭经患者的细胞遗传学分析

Analysis of cytogenetic abnormalities of the patient with amenorrhea

目的分析闭经患者细胞遗传学的检查结果,探讨染色体异常对性腺发育及表型的影响。方法对234例原发闭经和309例继发闭经患者进行外周血染色体的核型分析。结果原发闭经患者染色体异常137例,异常检出率为58.6%;继发闭经患者染色体异常42例,异常检出率为13.6%。染色体异常包括X染色体数目及结构异常,46,XY、45,X0/46,XY以及常染色体结构异常。结论染色体异常是闭经的主要原因之一,染色体核型分析对闭经患者的诊断和治疗是必要的。

Objective: To analyse the cytogenetic examination results to investigate the effect of chromosome (abnormalities) on amenorrhea.Method: The routine cytogenetic analysis was performed, including the chromosome G band analysis and karyotype analysis of the cultured peripheral blood lymphocytes.Results: One hundred and thirty-seven cases were found with chromosome abnormalities in 234 (patients) with primary amenorrhea. The incidence of chromosome abnormality was 58.6%. In those with secondary amenorrhea, the incidence of chromosome abnormality was 13.6%. The reported (abnormalities) included the numeric and structural abnormalities of X chromosome, 46,XY, 45,X0/46,XY, and the structural abnormality of autosome. Conclusion: Chromosome abnormality is one of the main causes of amenorrhea. Karyotype analysis of chromosome is absolutely necessary for the diagnosis and treatment of patient with amenorrhea.