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目的:探讨本地区外周血染色体异常核型分布及与临床疾病的关系。方法:对本地区792例遗传咨询者,抽取外周血,培养淋巴细胞,常规G显带,进行染色体核型分析。结果:792例遗传咨询者中检出50例异常核型,发生率6.31%。2009年-2011年异常核型检出例(率)分别为15(6.00%)、16(6.35%)、19(6.55%),年份之间检出率差异无显著统计学意义(χ2=0.07,P>0.05)。2009年中常染色体结构异常中的平衡易位比例均高于其他种类,差异具有显著统计学意义(χ2=16.35,P<0.01)。结论:舟山地区平衡易位占常染色体结构异常的比例较高,应加强对此类咨询者的检查、追踪及随访。
Objective: To explore the relationship between karyotype distribution of peripheral chromosomal abnormalities and clinical diseases in this area. Methods: A total of 792 cases of genetic counseling in this area were collected from peripheral blood, lymphocytes and G - banding, and analyzed for karyotype. Results: Of the 792 cases of genetic counseling, 50 cases were detected abnormal karyotype, the incidence rate was 6.31%. The detection rate of abnormal karyotypes in 2009-2011 were 15 (6.00%), 16 (6.35%) and 19 (6.55%) respectively, with no significant difference between years (χ2 = 0.07 , P> 0.05). In 2009, the proportions of the equilibrium translocations in the structural abnormalities of autosomal dominant chromosomes were higher than those of other species, with significant difference (χ2 = 16.35, P <0.01). Conclusion: The balance of autosomal dominant chromosomal abnormalities in Zhoushan area has a high proportion. The examination, follow-up and follow-up of these consultants should be strengthened.