The 22q11.2 Deletion Syndrome in Congenital Heart Defects: Prevalence of Microdeletion Syndrome in Cameroon

Background The 22q11.2 deletion syndrome is amongst the most common microdeletion syndrome in humans. Its prevalence remains unknown in sub-Saharan Africa, and its clinical features are under-reported for people of African descent. Objective We have investigated the prevalence of the 22q11.2 deletion syndrome in patients with congenital heart defects in Cameroon. Methods A total of 70 of 100 cases of congenital cardiac malformation with echocardiographic evidence were examined prospectively and tested for the 22q11.2 deletion, using multiplex ligation-dependent probe amplification and fluorescence in situ hybridization. Results Two of 70 patients (2.8%) were found to have 22q11.2 deletion. Both cases had conotruncal heart defects and exhibited extracardiac features of the 22q11.2 deletion syndrome that were either classical (e.g., puffy upper eyelids, bulbous tip of the nose) or less identifiable (telecanthus, hooding of eyelids and prominent nasal bridge). Conclusions The report shows that the prevalence of the 22q11.2 deletion syndrome in patients with heart malformations in Cameroon (2.8%) is similar to that of various world populations. The clinical phenotypes will contribute to the Global Atlas for dysmorphology. “Omics” technologies offer much promise in genetic/genomic screening of severe global health problems.