Amati F, Mari A, Digilio M C, Mingarelli R, Marino B, Giannotti A, Novelli G, Dallapiccola B
Department of Public Health and Cell Biology, University of Tor Vergata, Rome, Italy.
Hum Genet. 1995 May;95(5):479-82. doi: 10.1007/BF00223856.
Tetralogy of Fallot (TF) is a congenital conotruncal heart defect commonly found in DiGeorge (DGS) and velo-cardio-facial (VCFS) syndromes. The deletion of chromosome 22q11 (del22q11) is a well established cause of DGS and VCFS, and it has been demonstrated also in sporadic or familial cases of TF. In order to investigate the prevalence of del22q11 in patients with TF, we analyzed the DNA of 137 consecutive patients with syndromic and isolated TF, using the HD7k probe, which detects hemizygosity for the D22S134 locus. Del22q11 has been detected in 11/26 (42%) syndromic patients. Evidence for hemizygosity was obtained in all patients with DGS and in 8/15 patients with VCFS. None of the 107 patients with isolated TF had del22q11. Our experience suggests that children with TF and del22q11 always present major or minor extracardiac anomalies. These features, including subtle facial dysmorphisms, should be checked routinely in patients with TF and other conotruncal heart defects.
法洛四联症（TF）是一种常见于迪格奥尔格综合征（DGS）和腭心面综合征（VCFS）的先天性圆锥动脉干心脏缺陷。22q11染色体缺失（del22q11）是DGS和VCFS的一个公认病因，在散发性或家族性TF病例中也得到了证实。为了研究del22q11在TF患者中的患病率，我们使用检测D22S134位点半合子性的HD7k探针，分析了137例连续性综合征型和孤立型TF患者的DNA。在26例综合征型患者中有11例（42%）检测到del22q11。所有DGS患者以及15例VCFS患者中的8例获得了半合子性证据。107例孤立型TF患者中无一例有del22q11。我们的经验表明，患有TF和del22q11的儿童总是存在主要或次要的心外异常。这些特征，包括细微的面部畸形，在TF和其他圆锥动脉干心脏缺陷患者中应常规检查。
