title: The 22q11.2 Deletion Syndrome in Congenital Heart Defects: Prevalence of Microdeletion Syndrome in Cameroon.
abstract: 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.
  
  
  
  We have investigated the prevalence of the 22q11.2 deletion syndrome in patients with congenital heart defects in Cameroon.
  
  
  
  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.
  
  
  
  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).
  
  
  
  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.
authors.affiliation: Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa. Electronic address: ambroise.wonkam@uct.ac.za.
authors.forename: Ambroise
authors.initials: A
authors.lastname: Wonkam
authors.affiliation: Faculty of Medicine and Biomedical Sciences, University of Yaoundé 1, Yaoundé, Cameroon.
authors.forename: Ricardo
authors.initials: R
authors.lastname: Toko
authors.affiliation: Faculty of Medicine and Biomedical Sciences, University of Yaoundé 1, Yaoundé, Cameroon.
authors.forename: David
authors.initials: D
authors.lastname: Chelo
authors.affiliation: Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
authors.forename: Cedrik
authors.initials: C
authors.lastname: Tekendo-Ngongang
authors.affiliation: Faculty of Medicine and Biomedical Sciences, University of Yaoundé 1, Yaoundé, Cameroon.
authors.forename: Samuel
authors.initials: S
authors.lastname: Kingue
authors.affiliation: Service of Genetic Medicine, Geneva University Hospitals, Geneva, Switzerland.
authors.forename: Sophie
authors.initials: S
authors.lastname: Dahoun
mesh_terms: D000293:Adolescent; D000328:Adult; D002163:Cameroon / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D004062:DiGeorge Syndrome / Q000453:epidemiology* / Q000235:genetics; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D006330:Heart Defects, Congenital / Q000453:epidemiology* / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D015995:Prevalence; D012189:Retrospective Studies; D012307:Risk Factors; D055815:Young Adult