摘要
目的研究染色体异常与临床疾病发生之间的关系。方法采用人外周血淋巴细胞培养,常规G显带技术进行核型分析。结果2436例检查者中,染色体异常167例,异常检出率为6.86%。染色体异常疾病主要发生于有不良孕产史、不孕不育、性分化异常、原发闭经及智力低下。结论染色体异常会导致临床疾病的发生,遗传咨询和产前诊断在临床治疗及指导优生中具有重要意义。
Objective： To analyze the correlation between karyotypes and clinical presentations of patients with chromosomal abnornudity. Methods ： Routine culture for the peripheral blood lymphocytes and G band karyotype were analyzed. Results ： A total of 2436 patients were karyotyped, 167 cases of abnormal karyotype were detected, the detection rate was 6. 86%. Clinical presentation of diseases include history of abnomal pregnancy, sterility, sexual development abnormity, primary amenorrhea and feeble mindedness. Conclusion ： Some diseases probably relate to chromosomal abnormalities. It is important to genetic counseling and prenatal diagnosis for clinical treatment and guide bear.
出处
《中国优生与遗传杂志》
2007年第6期42-43,46,共3页
Chinese Journal of Birth Health & Heredity
关键词
染色体异常
核型分析
细胞遗传学
Chromosomal abnomalility
Karyotype analysis
Cytogenetics
