59例闭经女性的外周血染色体核型分析及临床意义

The cytogenetics analysis and clinical significance of 59 cases of amenorrhea

目的探讨原发和继发性闭经患者外周血染色体核型的分布及临床意义。方法常规外周血淋巴细胞培养制备染色体,G显带核型分析。结果在59例闭经患者中共检出染色体异常28例,总异常率为47.46%,其中53例原发闭经患者染色体异常28例,异常率占52.83%[45,X16例、45,X/46,X,i(Xq)3例、46,X,i(Xq)1例、46,XY5例、47,XXX1例、46,XY/45,X 1例、46,X,dup(Xp)1例];6例继发闭经患者染色体结果均正常。结论染色体异常是原发闭经发生的重要原因之一,对该类患者进行外周血染色体核型分析,特别是14岁以上第二性征不发育、身材矮小、肘外翻的女性应该做到早期诊断和治疗。

Objective：To study the distribution and clinical significance of the karyotype of amenorrhea.Methods：Blood samples were regular cultured,proceeding,G-banding and analysed.Results： 59 cases were chosen including 53 primary amenorrhea patients and 6 secondary amnorrhea patients.28 patients are abnormal（47.46%）.[45,X 16 cases,45,X/46,X,i（Xq） 3 cases,46,X,i（Xq） 1case,46,XY 5 cases,47,XXX 1 case,46,XY/45,X 1 case,46,X,dup（Xp） 1case].The karyotype of 6 secondary amnorrhea patients is normal.Conclusion： Abnormal karyotype is one of the reason of primary amenorrheal.It′s necessary to analyse the blood karyotype of patients with amenorrhea.