检验医学与临床2019，Vol.16Issue(4)：441-443,3.DOI:10.3969/j.issn.1672-9455.2019.04.003
厦门地区2947例遗传咨询者的染色体核型分析
Chromosome karyotype analysis of 2 947 subjects attending genetic counseling in Xiamen area
摘要
Abstract
Objective To investigate the clinical significance of chromosome examination in the genetic counseling.Methods A total of 2 947persons undergoing the genetic counseling conducted the peripheral blood lymphocyte culture and G-banding karyotype analysis.Results Among 2 947cases of genetic counseling, 138cases (4.68％) were abnormal chromosome karyotypes.Among them, there were 31cases of abnormal chromosome numbers, accounting for 22.46％of the abnormal chromosome karyotypes.There were 107cases of abnormal chromosome structure, accounting for 77.54％of the abnormal chromosome karyotypes.Conclusion It is necessary to check the peripheral blood chromosome in the persons undergoing the genetic counseling, which can provide a scientific basis for eugenics and prenatal diagnosis.关键词
核型分析/异常染色体核型/遗传咨询Key words
karyotype analysis/abnormal chromosome karyotype/genetic counseling分类
医药卫生引用本文复制引用
邱惠国,潘华,张栋栋,陈萍,洪国粦..厦门地区2947例遗传咨询者的染色体核型分析[J].检验医学与临床,2019,16(4):441-443,3.基金项目
福建省自然科学基金资助项目(2016J01643) （2016J01643）
福建省厦门市重要重大疾病联合攻关项目(3502Z20179044) （3502Z20179044）
