[en] 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. CONCLUSION: This study showed that CNVs are present in African population and show the importance to implement genetic testing in East-African countries.
Disciplines :
Genetics & genetic processes
Author, co-author :
Uwineza, Annette; Centre Hospitalier Universitaire de Liège - CHU > Génétique
CABERG, Jean-Hubert ; Centre Hospitalier Universitaire de Liège - CHU > Génétique
Hitayezu, Janvier
JAMAR, Mauricette ; Centre Hospitalier Universitaire de Liège - CHU > Génétique
DIDEBERG, Vinciane ; Centre Hospitalier Universitaire de Liège - CHU > Génétique
Rusingiza, Emmanuel K.
Bours, Vincent ; Université de Liège - ULiège > Département des sciences biomédicales et précliniques > GIGA-R : Génétique humaine
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