【摘要】 目的探讨徐州地区遗传咨询者外周血染色体异常核型出现的类型、发生率及与先天愚型、不良孕史、不孕不育和发育异常等疾病的相关性。方法对2014年10月至2017年6月期间我院1021例遗传咨询者,抽取外周血,培养淋巴细胞,进行G显带核型分析,分析其异常核型发生率,探讨其与疾病的发生关系。结果检出染色体核型异常74例,异常率为7.25%;其中常染色体数目异常8例,性染色体数目异常16例;常染色体结构异常共48例,性染色体结构异常2例,染色体多态性24例。结论先天愚型、精子生成障碍、不孕不育和习惯性流产的患者染色体异常比率较高,临床中此类人群非常有必要做染色体核型分析。更多还原

【Abstract】 Objective:To investigate the types and incidences of chromosomal abnormalities and its relations with genetic diseases among the consultants in Xuzhou area. Methods:Chromosome karoytype for peripheral blood from suspicious patients was determined through lymphocyte culture and G-banding karyotyping analysis. Results:Out of the 1021 cases of genetic counseling,74 cases(7.25%) had chromosome abnormalities. Among them,8 cases had abnormal euchromosome number,16 cases were with abnormal sex chromosome number. In addition,48 cases were with abnormal euchromosome structure,and 2 cases had sex aberrant chromosome structure. Lastly,24 cases were with chromosomal polymorphism. Conclusion:The abnormality of chromosome is the important reason for abnormal development,fetal failure development,autonomous abortion,infertility and unfavorable pregnancy. It is necessary to perform chromosome karyotyping in high-risk populations.更多还原