A parallel study of different array-CGH platforms in a set of Spanish patients with developmental delay and intellectual disability

• Published in: Gene 2013-05, Vol.521 (1), p.82-86
• Main Authors: Rodríguez-Revenga, Laia, Vallespín, Elena, Madrigal, Irene, Palomares, María, Mur, Antonio, García-Miñaur, Sixto, Santos, Fernando, Mori, M. Ángeles, Lapunzina, Pablo, Mila, Montserrat, Nevado, Julián
• Format: Article
• Language: English
• Subjects: aCGH; Commercial platforms; Development delay; Developmental Disabilities - diagnosis; Developmental Disabilities - genetics; DNA Copy Number Variations; Humans; In Situ Hybridization, Fluorescence; Intellectual disabilities; Intellectual Disability - diagnosis; Intellectual Disability - genetics; KaryoArray; Microsatellite Repeats; Oligonucleotide Array Sequence Analysis - methods
• ISSN: 0378-1119; 1879-0038
• DOI: 10.1016/j.gene.2013.02.043

Developmental delay and intellectual disability, which occur in 1–3% of the population, account for a large number of the cases regularly seen in genetic units. Chromosomal microarray analysis has been shown to be a valuable clinical diagnostic assay and it should be the first-tier clinical diagnostic test for individuals with these conditions. However and due to several difficulties such as the platform resolution, the cost, and the inexperience with genomic data bases, the implementation of this test in many cytogenetic laboratories has been delayed. In an attempt to provide more insights of the benefits derived by using the chromosomal microarray analysis, this study presents the experience of two clinical centers using three different microarray platforms. The results obtained using a custom microarray (KaryoArray®) and two different commercial medium- and high-resolution whole-genome oligonucleotide microarrays have been compared. An overall diagnostic yield of around 15% has been obtained. However, the custom microarray platform has been shown to be more convenient for a clinical setting, since it allows the detection of more pathogenic copy number variants and less common variants. •Pathogenic detection rates are higher using custom whole genome-targeted array.•Custom array-CGH has the advantage that it reveals less common CNVs.•CMA is a powerful technology to detect imbalances associated with DD/ID.