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目的对外周血中单个细胞染色体畸变的类型及其临床表现进行遗传学分析并探讨相应对策。方法取两种培养基,采用外周血常规培养法,培养72h后收获制片,G显带,进行核型分析,以每30～100个分裂相中找到1个异常染色体核型作为单个细胞染色体畸变的诊断标准,并比较两种培养基中出现单个细胞染色体畸变的比例。结果26例外周血单个细胞染色体畸变的畸变类型可分为平衡易位,不平衡易位,倒位,缺失及性染色体数目异常等;主要临床表现包括性发育异常,不良生育史及病残等;两种培养基中出现单个细胞染色体畸变的比例有显著性差异。结论在遗传咨询中,单个细胞染色体畸变有一定的临床意义,具有这种异常的个体生育后代时可考虑做产前诊断;染色体制备要严格控制条件,使用有正规批号的培养基。
Objective To analyze the genotype and clinical manifestations of chromosome aberrations in peripheral blood mononuclear cells and to explore the corresponding countermeasures. Methods Two kinds of culture media were taken and cultured by routine blood culture method. After cultured for 72h, the cells were harvested, G-banding was performed and karyotype analysis was performed. One abnormal chromosome karyotype was found in 30-100 split phases as a single cell chromosome The diagnostic criteria for aberrations were compared and the proportion of chromosomal aberrations in a single cell in both media was compared. Results The types of chromosome aberrations in peripheral blood mononuclear cells of 26 cases were categorized as balanced translocation, unbalanced translocation, inverted position, deletion and abnormality of the number of sex chromosomes. The main clinical manifestations included sexual dysplasia, unhealthy birth history and disability There was a significant difference in the proportion of chromosome aberrations in single cells between the two media. Conclusion In genetic counseling, chromosome aberration of a single cell has some clinical significance. Prenatal diagnosis may be considered when having such an abnormal individual offspring. Chromosomal preparation should be strictly controlled conditions, using a formal batch medium.