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

作者：Uwineza Annette; Caberg Jean Hubert; Hitayezu Janvier; Hellin Anne Cecile; Jamar Mauricette; Dideberg Vinciane; Rusingiza Emmanuel K; Bours Vincent; Mutesa Leon^*

来源：BMC Medical Genetics, 2014, 15(1): 79.

DOI：10.1186/1471-2350-15-79

• Developmental delay
• Intellectual disability
• Multiple congenital abnormalities
• Array-CGH
• Copy number variation
• Rwandan patients

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. %26lt;br%26gt;Methods: Array comparative genomic hybridization was performed in 50 Rwandan patients with development delay/intellectual disability and multiple congenital abnormalities, using the Agilent%26apos;s 180 K microarray platform. %26lt;br%26gt;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. %26lt;br%26gt;Conclusion: This study showed that CNVs are present in African population and show the importance to implement genetic testing in East-African countries.

• 出版日期2014-7-12