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

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).