Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies.
BMC Med Genet
; 15: 79, 2014 Jul 12.
Article
in En
| MEDLINE
| ID: mdl-25016475
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.CONCLUSION:
This study showed that CNVs are present in African population and show the importance to implement genetic testing in East-African countries.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Abnormalities, Multiple
/
Developmental Disabilities
/
Comparative Genomic Hybridization
/
Intellectual Disability
Limits:
Adolescent
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Country/Region as subject:
Africa
Language:
En
Journal:
BMC Med Genet
Journal subject:
GENETICA MEDICA
Year:
2014
Document type:
Article