Velo-cardio-facial phenotype and deletion of 22q11.2 in Hungarian children

摘要: Velo-cardio-facial syndrome is a developmental disorder characterized by heart defects, specific facial features, cleft palate and learning disability. Most patients have 3-Mb deletion in chromosomal region 22q11.2. This microdeletion has also been found with isolated conotruncal malformations. Although no significant ethnic variability reported the frequency 22q11.2 deletions, some recent studies question high of this as underlying cause velo-cardio-facial Anglo-American populations. A screening program was initiated, including detailed clinical assessment, followed fluorescence situ hybridization for 24 children congenital cardiac malformations referred consecutively to our genetics clinic. We ratio associated findings delay patient group. The diagnosis established 8 patients. However, common detected only two children. conclude that, although 'velo-cardio-facial phenotype' appears be Hungarian malformations, many may different etiologies other than del(22)(q11.2).