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

Détails

ID Serval
serval:BIB_33A9D18655C1
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Puce a ADN: pourquoi et pour qui [Array CGH: why and to whom]
Périodique
Revue Médicale Suisse
Auteur(s)
Ferrarini A., Jacquemont S., Popovic M.B., Bonafé L., Martinet D.
ISSN
1660-9379[print], 1660-9379[linking]
Statut éditorial
Publié
Date de publication
2010
Volume
6
Numéro
237
Pages
390-396
Langue
français
Notes
Publication types: English Abstract ; Journal Article
Publication Status: ppublish
Résumé
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.
Mots-clé
Chromosome Aberrations, Comparative Genomic Hybridization, Genetic Diseases, Inborn/diagnosis, Genetic Diseases, Inborn/genetics, Humans
Pubmed
Création de la notice
24/06/2010 18:11
Dernière modification de la notice
03/03/2018 15:49
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