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目的:探讨多重链接依赖式探针扩增技术(MLPA)用于诊断先天性心脏病(CHD)22q11微缺失的可行性。方法:运用MLPA对120例CHD患儿进行22q11微缺失检测。结果:120例患儿中有10例检测出22q11微缺失,占8.33%,其中室间隔缺损3例,法洛四联症5例,肺动脉狭窄1例,右室双出口1例。此外,还检测出1例22q11重复,占0.83%,其表型为肺动脉狭窄。结论:CHD中存在一定比率的22q11微缺失,MLPA是一种快速、方便、有效检测22q11微缺失的方法。
Objective: To investigate the feasibility of MLPA in diagnosing microdeletion of 22q11 in congenital heart disease (CHD). Methods: MLPA was used to detect 22q11 microdeletions in 120 children with CHD. Results: 10 of 120 children detected a small deletion of 22q11, accounting for 8.33%. There were 3 cases of ventricular septal defect, 5 cases of tetralogy of Fallot, 1 case of pulmonary stenosis and 1 case of right ventricle double outlet. In addition, a case of 22q11 repeats, accounting for 0.83%, was also detected and its phenotype was pulmonary stenosis. Conclusion: There is a certain ratio of 22q11 microdeletions in CHD. MLPA is a rapid, convenient and effective method to detect 22q11 microdeletion.