邯郸地区原发性闭经患者的细胞遗传学分析

Cytogenetic analysis of primary amenorrhea in Handan district

目的探讨邯郸地区原发性闭经与异常染色体核型的关系。方法对来我院就诊的原发性闭经患者进行染色体检查,常规外周血淋巴细胞培养,G显带,Giemsa染色,进行染色体核型分析。结果在136例原发性闭经患者中,共检出染色体异常核型35例,异常率为25.74%,其中数目异常19例,占54.29%;结构异常13例,占37.14%;性反转3例,占8.57%。结论染色体异常是原发性闭经的重要原因之一,临床上应重视对原发性闭经患者的染色体核型分析检查,对明确诊断及治疗有重要的临床意义。

Objective:To explore the relationship between chromosome abnormalities and primary amenorrhea.Methods:G-banding and Giemsa staining after peripheral blood lymphocyte culture and chromosome preparation.Karyotype analysis was done under the microscope.Results:35 cases of abnormal karyotypes were detected in 136 cases of primary amenorrhea patients,the detection rate was 25.74%,Among 19 cases are numerical abnormality,accounting for 54.29%;13 cases are structural abnomalities,accounting for 37.14%;3 cases are sex reversal,accounting for 8.57%.Conclution:Chromosome abnormalities are one of the important factors leading to primary amenorrhea.The clinicians should pay attention to chromosome examination for primary amenorrhea patients,there is significant clinic meaning for clinical diagnosis and treatment.