洛阳地区2600例遗传咨询者外周血染色体分析  

Chromosomal analysis for 2600 cases genetic consultant in Luoyang area

作　　者：白静[1] 王亚男[1] 郭杰[1] 梁航[1] 

机构地区：[1]洛阳市妇女儿童医疗保健中心生殖研究所,河南洛阳471000

出　　处：《中国优生与遗传杂志》2010年第1期47-48,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的通过对患者外周血染色体分析,探讨染色体异常与疾病的关系。方法按常规方法收获外周血淋巴细胞及制片,G显带后分析染色体核型。结果2600例患者共检出183例异常染色体核型,异常率8%,其中21-三体核型84例,易位24例,倒位染色体核型16例,性染色体异常及其它异常59例。结论染色体异常是引起智力低下、不孕不育、习惯性流产、发育畸形的主要原因之一,染色体检查对提高人口素质有重要意义。Objective： To study the relationship between the abnormal karyotype and the disease with karyotype analysis. Methods： Chromosomes were prepared according to the human body lymphocyte culture method, and karyotype analysis were done after G - banding. Results ： 183 samples were detected in 2600 patients, the rate of abnormality is 8%. 84 cases were trisomy 21 karyotype, 24 cases were the transposition, 16 cases were chromosome inversion, 59 cases were sex chromosomal abnormalities and other abnormal karyotypes. Conclusion： Chromosome abnormality is a considerable reason for mental retardation, infertility, habitual abortion and deformity. Chromosome detection has an important sense to improve the human quality.

关 键 词：染色体 异常核型 遗传咨询 

分 类 号：R446.9[医药卫生—诊断学]