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PMID: 17943194 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Review

From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.

Nature reviews. Genetics ·Vol. 8 ·No. 11 ·2007-11-00 ·Pages 869-83

Emanuel BS, Saitta SC

Abstract

Submicroscopic chromosomal rearrangements that lead to copy-number changes have been shown to underlie distinctive and recognizable clinical phenotypes. The sensitivity to detect copy-number variation has escalated with the advent of array comparative genomic hybridization (CGH), including BAC and oligonucleotide-based platforms. Coupled with improved assemblies and annotation of genome sequence data, these technologies are facilitating the identification of new syndromes that are associated with submicroscopic genomic changes. Their characterization reveals the role of genome architecture in the aetiology of many clinical disorders. We review a group of genomic disorders that are mediated by segmental duplications, emphasizing the impact that high-throughput detection methods and the availability of the human genome sequence have had on their dissection and diagnosis.

MeSH Terms
Animals Base Sequence Chromosome Aberrations Gene Dosage Humans Microarray Analysis Microscopy Molecular Sequence Data
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Emanuel Beverly S
Division of Human Genetics, The Children's Hospital of Philadelphia, Abramson Research Center, Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Philadelphia 19104-4318, USA. [email protected]
Saitta Sulagna C
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Article Info
Journal
Nature reviews. Genetics
Abbr.
Nat Rev Genet
ISSN
1471-0064
DOI
10.1038/nrg2136
Email
[email protected]
Published
2007-11-00
Pages
869-83
Language
English
Region
England
NLM ID
100962779
PMCID
PMC2858421
Subset
IM
Grants
NHLBI NIH HHS · HL080637 · United States
NHLBI NIH HHS · HL04487 · United States
NCI NIH HHS · R01 CA039926-20 · United States
NHLBI NIH HHS · HL74731 · United States
NHLBI NIH HHS · P50 HL074731 · United States
NHLBI NIH HHS · K08 HL004487 · United States
NCI NIH HHS · R01 CA039926 · United States
NHLBI NIH HHS · R21 HL080637 · United States
NCI NIH HHS · CA39926 · United States
External Links
PubMed source DOI: 10.1038/nrg2136 PMC Full Text View journal details
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