武汉地区1931例遗传咨询者外周血和脐血淋巴细胞染色体分析  

Analysis of peripheral or cord blood chromosomal karyotype of 1931 cases genetic consultant

作　　者：王维鹏[1] 王波[1] 

机构地区：[1]湖北省妇幼保健院,武汉430070

出　　处：《中国优生与遗传杂志》2007年第7期26-27,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的研究遗传咨询患者中染色体异常核型的发生率。方法回顾本院自2004年以来送检的1931例外周血、脐血标本,通过染色体培养技术,G显带,必要时进行C显带检查,显微镜下进行核型分析。结果1931例遗传咨询患者,就诊原因主要为胎儿畸形、体格或智力发育迟缓、性分化异常、不良孕产史及不育症、原发及继发性闭经等,共检出异常染色体核型64种类型,196例,检出率为10.15%(196/1931),其中常染色体结构和数目异常106例,占异常核型的54.08%(106/196),性染色体结构和数目异常90例,占45.92%(90/196)。结论染色体异常是导致胎儿畸形、智力低下、不良孕产史、性发育异常等疾病的重要原因之一,染色体检查是十分必要的。Objective： To study the rate of abnomal karyotype of genetic consultant Methods： 1931 cases （from 2004 to 2006） genetic consultant of Hubei Materal and Child Health Hospital were detected by lymphocyte chromosome G - banding or C - banding （ if necessary） method in peripheral or cord blood. Results： From the 1931 cases genetic consultant （the main reasons of their consuling were deformed fetus, mental or physical retardetion, sexual development abnormity, primary or secondum amenorrhea, spontaneous abortion and stillbirth history）, we detected 64 kinds of abnomal karyotype （196 cases）. The abnomal karyotype took up 10. 15% （196/1931）. Among 196 abnormal karyotypes, 54. 08% （106/196） cases were euchromosome abnormailities, 45.92% （90/196） cases were sex chromosome abnormailities. Conclusion： Chromosome abnormailities is a considerable reasion for deformed fetus, mental or physical retardetion, sexual development abnormity, primary or secondum amenorrhea, spontaneous abortion and stillbirth history. Cytogenetics detection is necessary for the genetics consultant.

关 键 词：遗传咨询 染色体 异常核型 

分 类 号：R446.9[医药卫生—诊断学]