2064例细胞遗传学分析临床与优生意义

Clinical and prenatal diagnostic significance of cytogenetical analysis in 2064 patients

为了解国内主要异常染色体核型的分布情况 ,给优生干预提供科学的依据 ,对2064例患者进行常规接种、培养并制备外周血淋巴细胞染色体G显带标本 ,必要时进行C带和高分辨G显带分析。结果显示 ,2064例患者中 ,染色体异常457例 ,异常检出率为22.1 % ,涉及异常核型80余种。染色体异常中常染色体异常263例 ,性染色体异常194例 ;染色体数目异常315例 ,结构异常116例 ,性反转26例。提示染色体核型分析是诊断染色体病、检出携带者以及进行产前诊断的主要方法 ;21_三体综合征和Turner综合征是临床最常见的染色体异常 ,其染色体核型复杂多样。

To investigate the distribution characteristics of the main abnormal karyotype in China and to provide the information for prenatal diagnosis and intervention, the cytogenetical results were analysed in 2064 patients.Samples from 2064 patients were prepared with routine inoculation and incubation methods,and then karyotype analysis of the peripheral blood lymphocytes was carried out with G_banding.C_banding,R_banding or high resolution G_banding were used when necessary.22.1%(457/2064) of the patients was identified to have abnormal chromosome with more than 80 kinds of karyotype.Among these karyotype,263 cases were euchromosome malformation,194 were sex chromosome malformation. Of them,315 cases had abnormal number of chromosome,116 had structural abnormalities and 26 were sexual reversion, indicating that karyotype analysis is one of the main approaches in diagnosis of the chromosomal diseases,and detection of the carriers of genetic abnormality as well as making prenatal diagnoses. Down syndrome and Turner syndrome are the two most common chromosome abnormality diseases with complicated karyotype.