Document Detail

Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis.
MedLine Citation:
PMID:  19951919     Owner:  NLM     Status:  MEDLINE    
Structural chromosomal rearrangements can lead to a wide variety of serious clinical manifestations, including mental retardation (MR) and congenital malformations. Over the last few years, rearrangements below the detection level of conventional karyotyping have been proved to contribute significantly to the cause of MR. These so-called copy number variations are now routinely being detected using various high-resolution microarray platforms targeting the entire human genome. In addition to their clinical diagnostic use, the introduction of these high resolution platforms has facilitated identification of novel microdeletion and microduplication syndromes as well as disease genes. The aims of this review are to address several aspects of this revolutionising technology including its application in the diagnostics of MR, the identification of novel microdeletion and microduplication syndromes, and the finding of causative genes for known syndromes. In addition, a future prospect is provided for the detection of disease causing mutations and structural variants by next generation sequencing technologies.
Lisenka E L M Vissers; Bert B A de Vries; Joris A Veltman
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review     Date:  2009-11-30
Journal Detail:
Title:  Journal of medical genetics     Volume:  47     ISSN:  1468-6244     ISO Abbreviation:  J. Med. Genet.     Publication Date:  2010 May 
Date Detail:
Created Date:  2010-05-10     Completed Date:  2010-07-28     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  289-97     Citation Subset:  IM    
Department of Human Genetics-855, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, PO Box 9101, Nijmegen 6500 HB, The Netherlands.
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MeSH Terms
Chromosome Aberrations
Chromosome Deletion
DNA Copy Number Variations*
Genome, Human
Mental Retardation / diagnosis,  genetics*
Oligonucleotide Array Sequence Analysis / methods*
Segmental Duplications, Genomic

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