【摘要】：先天性心臟病(CHD)是人類最常見的出生缺陷,也是嬰幼兒死亡的首要原因。其具體的發(fā)病機(jī)制至今仍未完全清楚,但已證實其病因主要為環(huán)境因素、遺傳因素以及兩者的共同作用。CHD患者較普通人群更易出現(xiàn)染色體異常,其中最常見的是21-三體綜合征,18-三體綜合征,少部分的CHD患者的染色體異常為結(jié)構(gòu)異常,主要表現(xiàn)為缺失、重復(fù)。本文就CHD與染色體異常的關(guān)系作一綜述。
[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.
【作者單位】： 福建省婦幼保健院福建醫(yī)科大學(xué)教學(xué)醫(yī)院;
【基金】：福建省科技重大專項(2013YZ0002-1) 福建省臨床重點�？平ㄔO(shè)項目(閩衛(wèi)科教2012149) 福建省科技計劃重點項目(2012Y0011)
【分類號】：R714.5;R596.1

【參考文獻(xiàn)】

相關(guān)期刊論文 前5條

1 閻萍;張曉航;姚宏;梁志清;常青;;胎兒先天性心臟病與染色體異常的臨床分析[J];第三軍醫(yī)大學(xué)學(xué)報;2012年02期

2 張t，

本文編號：2478015