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目的探讨染色体异常与先天性心脏病(先心病)的关系。方法回顾性分析复旦大学附属儿科医院1990年1月至2006年12月所进行染色体检查的患儿中染色体异常的核型种类,并统计先心病患儿染色体的核型特点。结果共检测4046例患儿的染色体,染色体异常660例(16.3%),其中常染色体异常以唐氏综合征最常见(458例,69.4%);性染色体异常以特纳综合征最常见(105例,15.9%)。接受染色体检查的患儿中先心病391例,其中染色体异常者185/391例(47.3%),157/185例核型表现为唐氏综合征,4/185例核型表现为特纳综合征。先心病中圆锥动脉干畸形105例,其染色体核型异常发生率较低,仅为16/105例(15.2%)(P<0.05)。染色体核型正常的先心病患儿中,圆锥动脉干畸形和非圆锥动脉干畸形分别有95和111例。结论染色体核型异常与先心病之间存在密切的相互联系。染色体核型异常易合并先心病;某些先心病患儿的染色体核型异常发生率明显升高。但圆锥动脉干畸形与常见染色体异常间无密切联系。因此,对于染色体异常患儿应常规进行心脏检查,以及早发现先心病。另外,尽管某些先心病患儿的普通染色体核型检查未发现异常,但有必要寻找更合适的检测技术提高染色体异常的检出率。
Objective To investigate the relationship between chromosomal abnormalities and congenital heart disease (CHD). Methods The karyotypes of chromosome abnormalities in children with chromosomal examination from January 1990 to December 2006 in Pediatric Hospital of Fudan University were retrospectively analyzed. The karyotype characteristics of chromosomes in children with CHD were analyzed. Results There were 660 cases (16.3%) of chromosomal abnormalities detected in 4046 children. Among them, the most common autosomal abnormalities were Down Syndrome (458 cases, 69.4%); the most common sex chromosome abnormalities were Turner Syndrome Case, 15.9%). There were 391 cases of congenital heart disease, of which 185/391 cases (47.3%) had chromosomal abnormalities, 157/185 cases of Down syndrome and 4 of 185 cases of Turner syndrome . Congenital heart disease in 105 cases of congenital heart disease, the incidence of chromosomal abnormalities was low, only 16/105 cases (15.2%) (P <0.05). Among children with congenital karyotypes, 95 and 111 cases of conotruncal and non-conotruncal malformations, respectively, were found. Conclusion There is a close relationship between chromosomal abnormalities and congenital heart disease. Chromosomal abnormalities easily mergence of congenital heart disease; some children with congenital heart disease karyotype abnormalities were significantly higher. But conus arteriosclerosis and common chromosomal abnormalities are not closely related. Therefore, for children with chromosomal abnormalities should be routine heart examination, and early detection of congenital heart disease. In addition, although some children with congenital heart disease common chromosome karyotype examination found no abnormality, but it is necessary to find more suitable detection techniques to improve the detection rate of chromosomal abnormalities.