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The genetics of microdeletion and microduplication syndromes: An update

AutorWatson, Corey T.; Marqués-Bonet, Tomàs ; Sharp, Andrew J.; Mefford, Heather C.
Palabras claveMicroarray
Nonallelic homologous recombination
Recurrent rearrangement
Copy-number variation
Intellectual disability
Developmental delay
Fecha de publicación2014
EditorAnnual Reviews
CitaciónAnnual Review of Genomics and Human Genetics 15: 215- 244 (2014)
ResumenChromosomal abnormalities, including microdeletions and microduplications, have long been associated with abnormal developmental outcomes. Early discoveries relied on a common clinical presentation and the ability to detect chromosomal abnormalities by standard karyotype analysis or specific assays such as fluorescence in situ hybridization. Over the past decade, the development of novel genomic technologies has allowed more comprehensive, unbiased discovery of microdeletions and microduplications throughout the human genome. The ability to quickly interrogate large cohorts using chromosome microarrays and, more recently, next-generation sequencing has led to the rapid discovery of novel microdeletions and microduplications associated with disease, including very rare but clinically significant rearrangements. In addition, the observation that some microdeletions are associated with risk for several neurodevelopmental disorders contributes to our understanding of shared genetic susceptibility for such disorders. Here, we review current knowledge of microdeletion/duplication syndromes, with a particular focus on recurrent rearrangement syndromes. Copyright © 2014 by Annual Reviews. All rights reserved.
Versión del editorhttp://dx.doi.org/10.1146/annurev-genom-091212-153408
URIhttp://hdl.handle.net/10261/115720
DOI10.1146/annurev-genom-091212-153408
Identificadoresdoi: 10.1146/annurev-genom-091212-153408
e-issn: 1545-293X
issn: 1527-8204
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