title: [Array CGH: why and to whom].
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.
authors.affiliation: Service de génétique médicale et Département médico-chirurgical de pédiatrie, CHUV, 1011 Lausanne. Alessandra.Ferrarini@chuv.ch
authors.forename: Alessandra
authors.initials: A
authors.lastname: Ferrarini
authors.forename: Sébastien
authors.initials: S
authors.lastname: Jacquemont
authors.forename: Maja Beck
authors.initials: MB
authors.lastname: Popovic
authors.forename: Luisa
authors.initials: L
authors.lastname: Bonafé
authors.forename: Danielle
authors.initials: D
authors.lastname: Martinet
mesh_terms: D002869:Chromosome Aberrations; D055028:Comparative Genomic Hybridization; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000235:genetics; D006801:Humans