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.
出处
《赣南医学院学报》
2013年第2期181-183,共3页
JOURNAL OF GANNAN MEDICAL UNIVERSITY
基金
江西省卫生厅科技项目(20092083)
关键词
染色体异常
细胞遗传学核型分析
优生优育
Chromosomal abnormalities
Analysis of chromosomal karyotypes
Birth health
