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目的探讨性染色体异常患者的细胞遗传学分析及其临床表现。方法采用外周血淋巴细胞染色体培养技术对患者外周血淋巴细胞行染色体培养并常规G显带核型分析。结果 74例性染色体异常核型中,性染色体数目异常31例,占异常核型的41.89%;性染色体结构异常1 8例,占24.32%;数目和结构都异常1例,占1.35%;Y染色体大小异常21例,占28.37%;另外还有性反转综合征3例,占4.05%。结论性染色体异常是导致不孕不育的重要原因,对患者进行染色体的检查,将有助于临床诊断治疗和优生咨询。
Objective To investigate the cytogenetic analysis and clinical manifestations of patients with sex chromosome abnormalities. Methods Peripheral blood lymphocytes were cultured with peripheral blood lymphocyte chromosomes and routine G - banding karyotype analysis. Results Among the 74 cases of chromosomal aberration karyotype, there were 31 cases with abnormal sex chromosome number, accounting for 41.89% of the abnormal karyotype; 18 cases with abnormal sex chromosome structure, accounting for 24.32%; 1 case with abnormal number and structure, accounting for 1.35%; Y Chromosome size abnormalities in 21 cases, accounting for 28.37%; in addition to sexual inversion syndrome in 3 cases, accounting for 4.05%. Conclusions Sexual chromosomal abnormality is an important reason leading to infertility. Chromosome examination of patients will be helpful for clinical diagnosis and treatment and eugenics consultation.