外周血染色体核型分析在染色体病诊断中的价值  

The Value of Chromosome Karyotype Analysis in Peripheral Blood in the Diagnosis of Chromosomal Diseases

作　　者：蒋廷婷 Jiang Ting-ting(Department of Clinical Laboratory,Suqian Hospital,Nanjing Gulou Hospital Group,Suqian,223800 Jiangsu Province,China)

机构地区：[1]南京鼓楼医院集团宿迁医院检验科,江苏宿迁223800

出　　处：《中外医药研究》2023年第5期120-122,共3页JOURNAL OF CHINESE AND FOREIGN MEDICINE AND PHARMACY RESEARCH

摘　　要：目的:探讨外周血染色体核型分析在染色体病诊断中的价值。方法:选取2019年2月—2021年12月南京鼓楼医院集团宿迁医院进行遗传咨询并接受外周血染色体核型分析的200名人员为观察对象。分析就诊原因和异常染色体检出情况、异常核型分布情况、染色体核型分析异常及其主要临床表现情况。结果:200名人员中发现14例(7.00%)染色体异常,其中染色体数目异常8例(57.14%),染色体结构异常6例(42.86%)。结论:采用外周血染色体核型分析可以检出异常情况,对染色体病具有较高诊断价值。Objective:To investigate the value of chromosome karyotype analysis in peripheral blood in the diagnosis of chromosomal diseases.Methods:200 people from Suqian Hospital of Nanjing Gulou Hospital Group who underwent genetic counseling and peripheral blood karyotype analysis from February 2019 to December 2021 were selected as the observation objects.The causes of treatment,abnormal staining,abnormal karyotype distribution,abnormal karyotype analysis and main clinical manifestations were analyzed.Results:There were 14 cases(7.00%)with abnormal chromosome number,8 cases(57.14%)with abnormal chromosome number and 6 cases(42.86%)with abnormal chromosome structure.Conclusion:The chromosome karyotype analysis of peripheral blood can detect the abnormal condition,which has high diagnostic value for chromosome disease.

关 键 词：染色体病 外周血染色体核型 异常核型 

分 类 号：R73[医药卫生—肿瘤]