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[Array CGH: why and to whom]. / Puce a ADN: pourquoi et pour qui?
Ferrarini, Alessandra; Jacquemont, Sébastien; Popovic, Maja Beck; Bonafé, Luisa; Martinet, Danielle.
Afiliación
  • Ferrarini A; Service de génétique médicale et Département médico-chirurgical de pédiatrie, CHUV, 1011 Lausanne. Alessandra.Ferrarini@chuv.ch
Rev Med Suisse ; 6(237): 390-2, 394-6, 2010 Feb 24.
Article en Fr | MEDLINE | ID: mdl-20383968
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.
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Bases de datos: MEDLINE Asunto principal: Hibridación Genómica Comparativa Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: Fr Revista: Rev Med Suisse Asunto de la revista: MEDICINA Año: 2010 Tipo del documento: Article
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Bases de datos: MEDLINE Asunto principal: Hibridación Genómica Comparativa Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: Fr Revista: Rev Med Suisse Asunto de la revista: MEDICINA Año: 2010 Tipo del documento: Article