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 fro

SUBMITTER: Uwineza A 

PROVIDER: S-EPMC4123504 | biostudies-literature | 2014 Jul

REPOSITORIES: biostudies-literature