A parallel study of different array-CGH platforms in a set of Spanish patients with developmental delay and intellectual disability |
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Authors: | Laia Rodríguez-Revenga Elena Vallespín Irene Madrigal María Palomares Antonio Mur Sixto García-Miñaur Fernando Santos M Ángeles Mori Pablo Lapunzina Montserrat Mila Julián Nevado |
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Institution: | 1. Biochemistry and Molecular Genetics Department, Hospital Clínic, Barcelona, Spain;2. CIBER de Enfermedades Raras (CIBERER), Spain;3. Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario la Paz-IdiPaz of Madrid, Spain;4. Paediatrics Service, Hospital Universitario del Mar, Barcelona, Spain;5. Paediatrics and Obstetrics Department, Universidad de Barcelona, Barcelona, Spain;6. IDIBAPS (Institut d''Investigacions Biomèdiques August Pi i Sunyer), Barcelona, Spain |
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Abstract: | 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. |
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Keywords: | DD/ID developmental delay/intellectual disability aCGH array comparative genome hybridization CMA chromosomal microarray analysis BAC bacterial artificial chromosome INGEMM Instituto de Gené tica Mé dica y Molecular FXS fragile X syndrome MLPA multiplex ligation-dependent probe amplification DNA deoxyribonucleic acid ADM-2 Aberration Detection Method 2 CNV copy number variant VOUS variance of uncertain significance FISH fluorescence in situ hybridization UCSC University of California at Santa Cruz qPCR quantitative polymerase chain reaction OMIM Online Mendelian Inheritance in Man |
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