额外小标记染色体患者的细胞遗传学检测  

Cytogenetical analysis of patients with small supernumerary marker chromosome

作　　者：叶长烂[1] 夏冰[1] 江悦华[1] 张中芬[1] 王捷[1] 

机构地区：[1]广州军区广州总医院医学实验科,广州510010

出　　处：《中国优生与遗传杂志》2016年第3期67-68,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的报告9例额外小标记染色体(s SMC)病例,结合文献分析s SMC的特点及临床意义。方法应用外周血淋巴细胞培养、染色体G显带技术对5110例遗传咨询病人进行染色体核型分析。结果发现9例s SMC患者,其中47,XY,+mar 3例,47,XX,+mar 3例,45,X/46,X,+mar 2例,48,XY,+2mar 1例。结论 s SMC具有染色体来源和表型的异质性,G显带核型分析结合多种分子遗传学检测技术可对其进行鉴定。Objective：To report 9 cases of small supernumerary marker chromosome（s SMC）and to analysis the characteristic and clinical significance. Methods：Chromosomal karyotypes were analyzed in 5110 patients by using G-banding after periphery blood lymphocyte culture. Results：9 cases of s SMC were found,which included 3 cases of 47,XY,＋mar,3 cases of 47,XX,＋mar,2 cases of 45,X/46,X,＋mar and 1 case of 48,XY,＋2mar. Conclusion：The s SMC have heterogeneity in chromosome sources and phenotypes,identification of s SMC will require combination of G-banding karyotype analysis and molecular techniques.

关 键 词：额外小标记染色体 核型分析 G显带 

分 类 号：R440[医药卫生—诊断学]