赣州地区456例遗传咨询者细胞遗传学染色体核型分析

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英文篇名：Analysis of chromosomal karyotypes in 456 cases of cytogenetic counseling of Ganzhou 作者：宋涛 ; 李凡 ; 郑胤强 ; 温庆荣 英文作者：SONG Tao1,LI Fan2,ZHENG Yin-qiang2,et al(1.Dept.of Biochemistry and Molecular Biology,Gannan Medical University;2.Outpatient Service of Genetic, the Women and Children Hospital of Ganzhou City,Ganzhou,Jiangxi 341000) 关键词：染色体异常 ; 细胞遗传学核型分析 ; 优生优育 英文关键词：Chromosomal abnormalities;Analysis of chromosomal karyotypes;Birth health 中文刊名：GNYX 英文刊名：Journal of Gannan Medical University 机构：赣南医学院生物化学与分子生物学教研室;赣州市妇女儿童医院遗传门诊; 出版日期：2013-04-28 出版单位：赣南医学院学报 年：2013 期：v.33;No.133 基金：江西省卫生厅科技项目(20092083) 语种：中文; 页：GNYX201302008 页数：3 CN：02 ISSN：36-1154/R 分类号：27-29

摘要

目的:了解赣州地区遗传咨询患者的染色体遗传情况及其与疾病的关系。方法:对456位遗传咨询的患者行外周血淋巴细胞培养,染色体G显带,并分析其核型。结果:共检出染色体异常核型108例,异常率为23.6%。结论:染色体核型异常与生育异常、智力低下、性发育障碍、生长发育障碍等疾病有密切联系,外周血染色体核型分析对遗传性疾病的诊断、治疗和预防有重要的意义。
        Objective:To study the chromosome genetic condition and its relationship with diseases of patients for genetic counseling in Ganzhou.Methods:456 patients who had genetic counseling in Women and Children Hospital of Ganzhou City were studied by the means of the peripheral blood lymphocyte culture,chromosome G banding and analyzing its karyotype.Results:There were 108 cases of abnormal karyotype of chromosome.The abnormal rate was 23.6%.Conclusion:There was a close relationship with abnormal chromosome karyotype and abnormal pregnancy,mental retardation,developmental disorders,developmental disorders.Analyzing the peripheral blood chromosome karyotype was significant for the genetic disease diagnosis,treatment and prevention.

引文

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