Autism spectrum disorders associated with chromosomal abnormalities / Adriana LO-CASTRO in Research in Autism Spectrum Disorders, 4-3 (July-September 2010)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 4-3 (July-September 2010) . - p.319-327 Titre : Autism spectrum disorders associated with chromosomal abnormalities Type de document : Texte imprimé et/ou numérique Auteurs : Adriana LO-CASTRO, Auteur ; Paolo CURATOLO, Auteur ; Arianna BENVENUTO, Auteur ; Cinzia GALASSO, Auteur ; Cristina PORFIRIO, Auteur Année de publication : 2010 Article en page(s) : p.319-327 Langues : Anglais (eng) Mots-clés : Autism-spectrum-disorders Chromosomal-abnormalities Mental-retardation Dysmorphic-features Minor-physical-anomalies Genetics Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASDs) constitute a class of severe neurodevelopmental conditions with complex multifactorial and heterogeneous etiology. Despite high estimates of heritability, genetic causes of ASDs remain elusive, due to a high degree of genetic and phenotypic heterogeneity. So far, several “monogenic” forms of autism have been identified, including Rett syndrome, Fragile-X syndrome, and Tuberous Sclerosis, accounting only for a small part of ASDs cases. Further evidences for rare mutations in the etiology of ASDs come from cytogenetic studies. Traditional cytogenetic approaches have highlighted the high frequency of large chromosomal abnormalities (about 7% of patients) and, more recently, the advent of high-resolution oligonucleotide microarrays has made possible to screen genome-wide for structural changes. In this review, we describe less known chromosomal abnormalities reported in association with ASDs and provide some clues to neuropediatricians for a more specific diagnostic evaluation of patients with ASDs. En ligne : http://dx.doi.org/10.1016/j.rasd.2009.10.006 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=100 [article] Autism spectrum disorders associated with chromosomal abnormalities [Texte imprimé et/ou numérique] / Adriana LO-CASTRO, Auteur ; Paolo CURATOLO, Auteur ; Arianna BENVENUTO, Auteur ; Cinzia GALASSO, Auteur ; Cristina PORFIRIO, Auteur . - 2010 . - p.319-327. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 4-3 (July-September 2010) . - p.319-327 Mots-clés : Autism-spectrum-disorders Chromosomal-abnormalities Mental-retardation Dysmorphic-features Minor-physical-anomalies Genetics Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASDs) constitute a class of severe neurodevelopmental conditions with complex multifactorial and heterogeneous etiology. Despite high estimates of heritability, genetic causes of ASDs remain elusive, due to a high degree of genetic and phenotypic heterogeneity. So far, several “monogenic” forms of autism have been identified, including Rett syndrome, Fragile-X syndrome, and Tuberous Sclerosis, accounting only for a small part of ASDs cases. Further evidences for rare mutations in the etiology of ASDs come from cytogenetic studies. Traditional cytogenetic approaches have highlighted the high frequency of large chromosomal abnormalities (about 7% of patients) and, more recently, the advent of high-resolution oligonucleotide microarrays has made possible to screen genome-wide for structural changes. In this review, we describe less known chromosomal abnormalities reported in association with ASDs and provide some clues to neuropediatricians for a more specific diagnostic evaluation of patients with ASDs. En ligne : http://dx.doi.org/10.1016/j.rasd.2009.10.006 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=100

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