先天性心脏病与染色体异常的关系研究进展
发布时间：2019-05-16 04:22
【摘要】：先天性心脏病(CHD)是人类最常见的出生缺陷,也是婴幼儿死亡的首要原因。其具体的发病机制至今仍未完全清楚,但已证实其病因主要为环境因素、遗传因素以及两者的共同作用。CHD患者较普通人群更易出现染色体异常,其中最常见的是21-三体综合征,18-三体综合征,少部分的CHD患者的染色体异常为结构异常,主要表现为缺失、重复。本文就CHD与染色体异常的关系作一综述。
[Abstract]:Congenital heart disease (CHD) is the most common birth defect and the leading cause of infant death. The specific pathogenesis of CHD is still not completely clear, but it has been confirmed that the main etiology is environmental factors, genetic factors and the combined effect of the two. Patients with CHD are more likely to have chromosome abnormalities than the general population. Among them, 21-trisomy syndrome, 18-trisomy syndrome, a small number of CHD patients with chromosome abnormalities are structural abnormalities, mainly manifested as deletion and repetition. In this paper, the relationship between CHD and chromosome abnormalities is reviewed.
【作者单位】： 福建省妇幼保健院福建医科大学教学医院;
【基金】：福建省科技重大专项(2013YZ0002-1) 福建省临床重点专科建设项目(闽卫科教2012149) 福建省科技计划重点项目(2012Y0011)
【分类号】：R714.5;R596.1
[Abstract]:Congenital heart disease (CHD) is the most common birth defect and the leading cause of infant death. The specific pathogenesis of CHD is still not completely clear, but it has been confirmed that the main etiology is environmental factors, genetic factors and the combined effect of the two. Patients with CHD are more likely to have chromosome abnormalities than the general population. Among them, 21-trisomy syndrome, 18-trisomy syndrome, a small number of CHD patients with chromosome abnormalities are structural abnormalities, mainly manifested as deletion and repetition. In this paper, the relationship between CHD and chromosome abnormalities is reviewed.
【作者单位】： 福建省妇幼保健院福建医科大学教学医院;
【基金】：福建省科技重大专项(2013YZ0002-1) 福建省临床重点专科建设项目(闽卫科教2012149) 福建省科技计划重点项目(2012Y0011)
【分类号】：R714.5;R596.1
【参考文献】
相关期刊论文 前5条
1 阎萍;张晓航;姚宏;梁志清;常青;;胎儿先天性心脏病与染色体异常的临床分析[J];第三军医大学学报;2012年02期
2 张t，
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