扬州地区5631例遗传咨询者外周血淋巴细胞染色体分析  

Peripheral blood chromosome karyotype of genetic counselee:an analysis of 5631 cases in Yangzhou area

作　　者：徐月新 张素华 傅丹 居云 XU Yue-xin ZHANG Su-hua FU Dan JU Yun(Department of Prenatal Diagnosis, Subei People＇s Hospital of Jiangsu Province, Yangzhou 225001, Jiangsu, China Reproductive Medicine Center, Subei People＇ s Hospital of Jiangsu Province, Yangzhou 225001, Jiangsu, China)

机构地区：[1]苏北人民医院产前诊断中心,扬州225001 [2]苏北人民医院生殖医学中心,扬州225001

出　　处：《中国优生与遗传杂志》2017年第1期67-69,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的通过对前来我院门诊进行遗传咨询人员的外周血淋巴细胞进行染色体核型分析,探讨扬州地区遗传咨询者中染色体异常分布情况及其与临床常见疾病的关系,指导临床咨询、处理和诊断。方法选取2006年11月-2015年12月在江苏省苏北人民医院5631例遗传咨询者,采用外周血淋巴细胞培养和G显带技术,进行细胞遗传学分析。结果 5631例遗传咨询者中,检查出染色体核型异常者247例,异常检出率为4.39%。结论染色体核型异常是导致成人流产、胚停、不孕不育症、儿童矮小及发育异常的重要原因之一,对具有特定临床表现就诊的患者,有必要对其进行外周血染色体检查,对临床诊断、优生优育及遗传咨询等方面具有重大的指导意义。Objective： To investigate the distributed characteristic of the distortion karyotype of the human chromosome in Yangzhou, and to explore the relationship between chromosomal abnormality and disease. Methods： Lymphocyte culture and G-banding karyotype analysis were performed on 5631 cases of genetic counseling in our hospital during 2006.11 to 2015.12. Results： Among 5631patients, 247 cases were found with abnormal karyotype with the abnormal rate of 4.39%. Conclusion： Chromosomal abnormality was directly attributable to autonomous abortion, embryo development ceasing, infertility and developmentaldisorders.It is necessary to preform the most common diagnostic test for chromosomal abnormalities for patients with special clinical manifestations. These results show great practical significance in clinical diagnosis, aristogenesis and genetic counseling.

关 键 词：遗传咨询 染色体 细胞遗传学 异常核型 

分 类 号：R596.1[医药卫生—内科学]