摘要
目的 通过对先天性心脏病合并其他畸形患者的染色体研究试图揭示其与染色体改变的内在联系。方法 对复杂先天性心脏病 19例 ,房、室间隔缺损 2 0例、法乐四联征 12例、马凡氏综合征 2例、室间隔缺损并心外畸形 5例等共 5 8例先天性心脏病患者取外周血 5ml进行培养、高分辨G带染色、高倍镜下分析染色体的畸变情况。结果 在 5 8例先天性心脏病患者中有 19例有不同的染色体畸变 ,占 32 .8% ,其中 ,2 2号染色体的微缺失占 9例 ;2 1三体型 3例 ,46,XX型 2例 ,4号染色体长臂缺失 2例 ,其他 3例。结论 2 2 q11微缺失是先天性心脏病患者最常见的染色体改变 ;复杂先天性心脏病患者的染色体改变检出率要明显高于一般的先天性心脏病病例。
Objecive To reveal internal relationshi p between congenital heart diseases and chromosome aberration on chromosome inspec tion of patients with congenital heart diseases complicated with other deformiti es.Methods Fifty-eight congenital heart disease patients,c ontaining 19 cases of complex congenital heart disease,20 cases of ASD and VSD ,12 cases of tetralogy of Fallot,2 cases of arachnodactyly and 5 cases of VSD combined with extra-cardiac malformations,were studied.Five ml peripheral bloo d from each patient was takne out and cultured.Giemsa band on chromosomes was st ained and analyzed under high times microscopy.Results Among the 58 cases of congenital heart disease,1 9 showed different chromosome deformities,accounting for 32.8%.Thereinto,9 pa tients showed tiny deletion of 22q11,3 trisomy of 21 chromosome,2 male patient s 46,XX,2 deletion of long arm on the forth chromosome,and the left 3 other d eformities on chromosomes.Conclusion Tiny deletion of 22q11 was the most common def ormity of chromosome for the patients with congenital heart disease.The positive rate of chromosome deformity in the patients with complex congenital heart dise ase was really higher than in those with common congenital heart disease.
出处
《中华实验外科杂志》
CAS
CSCD
北大核心
2001年第6期520-521,共2页
Chinese Journal of Experimental Surgery
关键词
先天性心脏病
染色体畸变
G带技术
Congenital heart disease
Chromosome de formity
Staining,giemsa band
