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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。
In order to understand the distribution of the major anomalous karyotypes in China and provide a scientific basis for the intervention of eugenics, 2064 patients were routinely inoculated, and the G-banding samples of peripheral blood lymphocytes were cultured and prepared. If necessary, C-band and high-resolution G Banding analysis. The results showed that in 2064 patients, 457 cases of chromosomal abnormalities, abnormal detection rate was 22.1%, involving more than 80 kinds of abnormal karyotype. There were 263 cases of autosomal abnormality and 194 cases of abnormal sex chromosome in chromosomal abnormality, 315 cases of abnormal chromosomal abnormalities, 116 cases of structural abnormalities and 26 cases of sexual inversion. Tip karyotype analysis is the diagnosis of chromosome disease, carrier detection and the main method of prenatal diagnosis; trisomy 21 and Turner syndrome is the most common clinical chromosomal abnormalities, the chromosome karyotype complex and diverse.