Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies.

Uwineza, Annette; CABERG, Jean-Hubert; Hitayezu, Janvier; JAMAR, Mauricette; DIDEBERG, Vinciane; Rusingiza, Emmanuel K.; Bours, Vincent; Mutesa, Leon; Hellin, Anne-Cécile

doi:10.1186/1471-2350-15-79

Article (Scientific journals)

Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies.

Uwineza, Annette; CABERG, Jean-Hubert; Hitayezu, Janvier et al.

2014 • In BMC Medical Genetics, 15 (1), p. 79

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https://hdl.handle.net/2268/171853

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10.1186/1471-2350-15-79

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25016475

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Abstract :

[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

Mutesa, Leon

Hellin, Anne-Cécile

Language :

English

Title :

Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies.

Publication date :

2014

Journal title :

BMC Medical Genetics

eISSN :

1471-2350

Publisher :

BioMed Central, United Kingdom

Volume :

Issue :

Pages :

Peer reviewed :

Peer Reviewed verified by ORBi

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since 08 September 2014

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