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目的分析兰州地区近5年遗传咨询患者中染色体异常核型的发生率。方法采用外周血淋巴细胞培养及染色体制备,G显带,必要时进行C显带,显微镜下进行核型分析。结果 6665例遗传咨询患者,共检出异常染色体核型370例,检出率为5.56%。常染色体异常226例,占异常核型的61.08%,性染色体异常65例,占17.57%,染色体多态变65例,占异常核型的17.57%。结论染色体异常是导致智力低下、不良孕产史、性发育异常等疾病的重要原因之一。
Objective To analyze the incidence of chromosomal abnormal karyotypes in genetic counseling patients in Lanzhou in recent 5 years. Methods Peripheral blood lymphocytes culture and chromosome preparation, G banding, if necessary, C band, karyotype analysis under the microscope. Results A total of 6665 cases of genetic counseling were detected in 370 cases of abnormal karyotype, the detection rate was 5.56%. An autosomal abnormality in 226 cases, accounting for 61.08% of anomalous karyotype, 65 cases of chromosomal abnormalities, accounting for 17.57%, 65 cases of chromosomal polymorphisms, accounting for 17.57% of abnormal karyotype. Conclusion Chromosomal abnormalities are one of the important causes of mental retardation, poor pregnancy history and sexual dysplasia.