广州地区580例智力低下患儿的染色体核型分析  

Chromosome abnormalities in selected children with malformations

作　　者：李东至[1] 潘敏[1] 易翠兴[1] 胡舜妍[1] 袁思敏[1] 吴韶清[1] 

机构地区：[1]广州市妇婴医院细胞遗传室,510180

出　　处：《中国优生与遗传杂志》2009年第4期42-42,24,共2页Chinese Journal of Birth Health & Heredity

基　　金：广州市医药卫生科技重点项目(2006-ZDi-19)

摘　　要：目的回顾性分析我院遗传咨询门诊580例0-4岁怀疑存在遗传缺陷的患儿的染色体核型分析结果。方法用常规的G显带技术分析患者外周血染色体核型。结果580例患儿中染色体异常者255(38.7%)例,其中唐氏综合征195例;绝大部分(88.4%)染色体异常为数目异常,少数为结构异常。结论对于临床怀疑为遗传综合征的患儿应常规做染色体检查。Objective： To examine the chromosomal composition of 580 patients at 0 -4 years old with mental retardation and/or congenital malformations in order to determine genetic causes for such disturbances. Methods： Patterns of G - banding using trypsin and Giemsa （GTG） were studied using phytohemagglutinin M -stimulated lymphocytes cultured from peripheral blood. Results： Among the patients, 225 （ 38.7% ） had abnormal chromosomes, with 195 cases of Down＇s syndrome. Most （ 88.4% ） of the cases with abnormal karyotypes were numerical abnormalities, with the remaining being structural variants. Conclusions： Patients with mental retardation and/or congenital malformations should be routinely karyotyped.

关 键 词：染色体异常 遗传咨询 

分 类 号：R725.9[医药卫生—儿科]