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应用染色体荧光原位杂交(FISH)技术,对25例不同表型的先天性心脏病患者外周血标本进行22q11微缺失的检测,以探讨先天性心脏病与22q11微缺失的关系。受检的23例单纯性先天性心脏病患者,无22q11缺失者为19例,发生缺失者为4例;2例法鲁氏四联症伴心外多发畸形患者,有22q11缺失。上述结果表明,先天性心脏病与22q11微缺失有关。
Twenty-five microdeletions of 22q11 were detected in 25 peripheral blood samples of congenital heart disease patients with different phenotypes by chromosomal fluorescence in situ hybridization (FISH) to explore the relationship between congenital heart disease and 22q11 microdeletion. Of the 23 patients with simple congenital heart disease examined, 19 were non-defective in 22q11 and 4 were deleted in the study. There were 22q11 deletions in 2 patients with tetralogy of Fallot with extra-cardiac multiple malformations. The above results indicate that congenital heart disease is associated with 22q11 microdeletion.