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目的分析生殖异常者染色体核型畸变特点,为生殖异常疾病的预防、诊断和治疗提供参考依据。方法取遗传咨询门诊、辅助生殖中心咨询者静脉血进行染色体培养,对染色体畸变核型进行分析。结果在167例染色体畸变核型中,常染色体畸变占74.3%、性染色体畸变占25.7%,其中数目畸变占62.9%、结构畸变占14.4%、多态性占22.7%。结论染色体畸变易发生于常染色体,染色体畸变的主要类型是数目畸变,常染色体畸变的主要类型是数目畸变和结构畸变,性染色体畸变的主要类型是多态性。
Objective To analyze the characteristics of chromosomal aberrations in genital abnormalities and provide references for the prevention, diagnosis and treatment of genital abnormalities. Methods Genetic counseling clinics, assisted reproductive center counselors venous blood for chromosome culture, chromosome aberration karyotype analysis. Results Of the 167 cases of karyotypes, autosomal aberrations accounted for 74.3%, sex chromosome aberrations accounted for 25.7%, of which the number of aberrations accounted for 62.9%, structural aberrations accounted for 14.4% and polymorphisms 22.7%. Conclusion Chromosomal aberrations are prone to occur in autosomes. The main types of chromosome aberrations are number distortions. The main types of autosomal aberrations are number distortions and structural aberrations. The main types of sex chromosome aberrations are polymorphisms.