Morava E, Czakó M, Melegh B, Kosztolányi G
University School of Pécs, Department of Medical Genetics and Child Development, Hungary.
Clin Genet. 2000 Nov;58(5):403-5. doi: 10.1034/j.1399-0004.2000.580512.x.
Velo-cardio-facial syndrome is a developmental disorder characterized by heart defects, specific facial features, cleft palate and learning disability. Most patients have a 3-Mb deletion in chromosomal region 22q11.2. This microdeletion has also been found in patients with isolated conotruncal malformations. Although no significant ethnic variability has been reported in the frequency 22q11.2 deletions, some recent studies question the high frequency of this as the underlying cause of velo-cardio-facial syndrome in Anglo-American populations. A screening program was initiated, including a detailed clinical assessment, followed by fluorescence in situ hybridization studies for microdeletion 22q11.2 in 24 children with congenital cardiac malformations referred consecutively to our genetics clinic. We found a high ratio of associated findings including cleft palate and developmental delay in our patient group. The clinical diagnosis of velo-cardio-facial syndrome was established in 8 patients. However, the common deletion was detected in only two children. We conclude that, although the 'velo-cardio-facial phenotype' appears to be common in Hungarian children with congenital cardiac malformations, many patients may have different etiologies other than del(22)(q11.2).
腭心面综合征是一种发育障碍，其特征为心脏缺陷、特定面部特征、腭裂和学习障碍。大多数患者在染色体22q11.2区域有3兆碱基的缺失。这种微缺失在孤立性圆锥动脉干畸形患者中也有发现。尽管在22q11.2缺失的频率方面未报告有显著的种族差异，但最近的一些研究对其作为英美人群腭心面综合征潜在病因的高频率提出了质疑。我们启动了一项筛查计划，包括详细的临床评估，随后对连续转诊至我们遗传门诊的24例先天性心脏畸形患儿进行22q11.2微缺失的荧光原位杂交研究。我们发现患者组中相关发现的比例很高，包括腭裂和发育迟缓。8例患者被确诊为腭心面综合征。然而，仅在两名儿童中检测到常见的缺失。我们得出结论，尽管“腭心面表型”在匈牙利先天性心脏畸形患儿中似乎很常见，但许多患者可能有除del(22)(q11.2)以外的不同病因。
