Puce a ADN: pourquoi et pour qui [Array CGH: why and to whom]

Details

Serval ID
serval:BIB_33A9D18655C1
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Puce a ADN: pourquoi et pour qui [Array CGH: why and to whom]
Journal
Revue Médicale Suisse
Author(s)
Ferrarini A., Jacquemont S., Popovic M.B., Bonafé L., Martinet D.
ISSN
1660-9379[print], 1660-9379[linking]
Publication state
Published
Issued date
2010
Volume
6
Number
237
Pages
390-396
Language
french
Notes
Publication types: English Abstract ; Journal Article
Publication Status: ppublish
Abstract
Structural genomic abnormalities play a key role in the pathogenesis of human disorders and represent one of the first causes of mental impairment, complex syndromes and tumors. In order to detect these chromosomal abnormalities, many methodologies have been developed with limits. The new ARRAY based Comparative Genomic Hybridization (ARRAY CGH) is a revolutionary approach which allows to characterize very small genetic abnormalities undetectable by the standard approaches and in the absence of any associated clinical information. The aim of this article is to describe why the application of a new array CGH methodology is necessary in the etiological search for genetic diseases, what the limits of the standard approaches are and to whom arrayCGH analyses can be applied in a pediatric environment. Examples of our practice will be presented.
Keywords
Chromosome Aberrations, Comparative Genomic Hybridization, Genetic Diseases, Inborn/diagnosis, Genetic Diseases, Inborn/genetics, Humans
Pubmed
Create date
24/06/2010 17:11
Last modification date
20/08/2019 13:19
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