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目的探讨染色体多态性的细胞遗传学分析及临床效应。方法对2008年1月至2014年10月1 862例遗传咨询患者(男性1 052例,女性810例)进行外周血染色体检查并结合临床病史进行分析。结果检出16种染色体多态性核型共91例,检出率为4.89%,多态核型以Y染色体多态、D/G组变异、inv(9)为主;其中男性检出74例,占81.32%;女性检出17例,占18.68%,男女检出率相比差异有统计学意义(P<0.05)。结论染色体多态性可引起各种临床效应,男性染色体多态性发生率高于女性,在遗传咨询工作中应引起重视。
Objective To investigate the cytogenetic analysis and clinical effect of chromosome polymorphism. Methods A total of 1 862 cases of genetic counseling (male 1052 and female 810) from January 2008 to October 2014 were analyzed by chromosomal DNA in peripheral blood and clinical history. Results A total of 91 karyotypes of 16 chromosomes were detected, the detection rate was 4.89%. Polymorphism karyotypes were mainly Y chromosome polymorphism, D / G group mutation and inv (9). Among them, 74 Cases, accounting for 81.32%; women were detected in 17 cases, accounting for 18.68%, the difference was statistically significant (P <0.05). Conclusion Chromosomal polymorphism can cause various clinical effects. The incidence of male chromosome polymorphism is higher than that of female, and should be paid more attention in genetic counseling.