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- Title
Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches.
- Authors
Koolen, David A.; Sistermans, Erik A.; Nilessen, Willy; Knight, Samantha J. L.; Regan, Regina; Liu, Yan T.; Kooy, R. Frank; Rooms, Liesbeth; Romano, Corrado; Fichera, Marco; Schinzel, Albert; Baumer, Alessandra; Anderlid, Britt-Marie; Schoumans, Jacqueline; Van Kessel, Ad Geurts; Nordenskjold, Magnus; De Vries, Bert B. A.
- Abstract
Genome-wide analysis of DNA copy-number changes using microarray-based technologies has enabled the detection of de novo cryptic chromosome imbalances in approximately 10% of individuals with mental retardation. So far, the majority of these submicroscopic microdeletions/duplications appear to be unique, hampering clinical interpretation and genetic counselling. We hypothesised that the genomic regions involved in these de novo submicroscopic aberrations would be candidates for recurrent copy-number changes in individuals with mental retardation. To test this hypothesis, we used multiplex ligation-dependent probe amplification (MLPA) to screen for copy number changes at eight genomic candidate regions in a European cohort of 710 individuals with idiopathic mental retardation. By doing so, we failed to detect additional submicroscopic rearrangements, indicating that the anomalies tested are non-recurrent in this cohort of patients. The break points flanking the candidate regions did not contain low copy repeats and/or sequence similarities, thus providing an explanation for its non-recurrent nature. On the basis of these data, we propose that the use of genome-wide microarrays is indicated when testing for copy-number changes in individuals with idiopathic mental retardation.European Journal of Human Genetics (2008) 16, 395–400; doi:10.1038/sj.ejhg.5201975; published online 9 January 2008
- Subjects
GENOMES; INTELLECTUAL disabilities; CHROMOSOME abnormalities; DNA microarrays; HUMAN genetics
- Publication
European Journal of Human Genetics, 2008, Vol 16, Issue 3, p395
- ISSN
1018-4813
- Publication type
Article
- DOI
10.1038/sj.ejhg.5201975