绍兴地区126例原发闭经患者的细胞遗传学分析

Analysis of cytogenetic examination in patients with 126 cases of primary amenorrhea

目的分析原发闭经患者细胞遗传学的检查结果并协助其临床诊断。方法常规外周血染色体制片及核型分析。结果在126例原发闭经患者中共检出染色体异常43例,异常检出率为34.1%,其中涉及到X染色体数目及结构异常33例,含Y染色体9例,常染色体结构异常1例,各占总染色体异常病例的76.7%、21.0%和2.3%。结论染色体异常是导致原发闭经的重要原因之一,对此类患者进行临床诊断和治疗时进行细胞遗传学检查非常必要。

Objective： To analyse the cytogenetic examination result of chromosome abnormalities on primary amenorrhea, and to assist in its clinical diagnosis. Methods： The routine cytogenetic analysis was performed, including the chromosome G band analysis and karyotype analysis of the cultured peripheral blood lymphocytes. Results ： Forty three cases were found with chromosome abnor- malities in 126 patients with primary amenorrhea. The incidence of chromosome abnormalities was 34. 1% （43/126）. Thirty three cases were fimnd with anomaly of chromosome X, which involved the number and structure abnormalities. Nine cases were found having Y chromosome. One case was found with autosomal abnormalities. The incidence of the three chromosome abnormalities was 76.7% （33/43） , 21.0% （9/43） and 2. 3% （1/43） respectively. Conclusion： Chromosome abnormalities was one of the main causes of primary amenorrhea. Karyotype analysis of chromosome was necessary for the diagnosis and treatment of patients with primary amenorrhea.