目的　研究先天性心脏缺陷患者中染色体 2 2 q11缺失发生率和表型效应。方法　应用生物素标记染色体2 2 q11内DNA探针进行荧光原位杂交 (FISH)技术 ,对 36例先天性心脏病患者进行检测分析。结果　在 36例先天性心脏病患者中 ,发现 4例患者有染色体 2 2q11缺失 ,缺失率为 11.1%。结论　染色体 2 2 q11缺失是导致先天性心脏缺陷的重要因素 ,荧光原位杂交法是诊断 2 2 q11缺失准确、特异的方法 Objective To investigate the incidence of chromosome 2 2 q11 deletions and phenotypic effects in patients with congenital heart defects. Methods 36 cases of congenital heart disease were detected by fluorescence in situ hybridization (FISH) with DNA probe of biotin-labeled chromosome 2 2 q11. Results In 36 patients with congenital heart disease, 4 patients were found to have chromosome 2 2q11 deletion, with a deletion rate of 11.1%. Conclusion Chromosome 22 q11 deletion is an important factor leading to congenital heart defects. Fluorescence in situ hybridization is an accurate and specific method for the diagnosis of 2 2 q11 deletion