title: Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies.
abstract: BACKGROUND
  Array-CGH is considered as the first-tier investigation used to identify copy number variations. Right now, there is no available data about the genetic etiology of patients with development delay/intellectual disability and congenital malformation in East Africa.
  
  
  METHODS
  Array comparative genomic hybridization was performed in 50 Rwandan patients with development delay/intellectual disability and multiple congenital abnormalities, using the Agilent's 180 K microarray platform.
  
  
  RESULTS
  Fourteen patients (28%) had a global development delay whereas 36 (72%) patients presented intellectual disability. All patients presented multiple congenital abnormalities. Clinically significant copy number variations were found in 13 patients (26%). Size of CNVs ranged from 0,9 Mb to 34 Mb. Six patients had CNVs associated with known syndromes, whereas 7 patients presented rare genomic imbalances.
  
  
  CONCLUSIONS
  This study showed that CNVs are present in African population and show the importance to implement genetic testing in East-African countries.
authors.forename: Annette
authors.initials: A
authors.lastname: Uwineza
authors.forename: Jean-Hubert
authors.initials: JH
authors.lastname: Caberg
authors.forename: Janvier
authors.initials: J
authors.lastname: Hitayezu
authors.forename: Anne Cecile
authors.initials: AC
authors.lastname: Hellin
authors.forename: Mauricette
authors.initials: M
authors.lastname: Jamar
authors.forename: Vinciane
authors.initials: V
authors.lastname: Dideberg
authors.forename: Emmanuel K
authors.initials: EK
authors.lastname: Rusingiza
authors.forename: Vincent
authors.initials: V
authors.lastname: Bours
authors.affiliation: Center for Medical Genetics, College of Medicine and Health Sciences, University of Rwanda, Huye, Rwanda. L.MUTESA@ur.ac.rw.
authors.forename: Leon
authors.initials: L
authors.lastname: Mutesa
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D055028:Comparative Genomic Hybridization / Q000379:methods*; D056915:DNA Copy Number Variations; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D012432:Rwanda