Autism Spectrum Disorders Associated with Chromosomal Abnormalities

Autor/inn/en	Lo-Castro, Adriana; Benvenuto, Arianna; Galasso, Cinzia; Porfirio, Cristina; Curatolo, Paolo
Titel	Autism Spectrum Disorders Associated with Chromosomal Abnormalities
Quelle	In: Research in Autism Spectrum Disorders, 4 (2010) 3, S.319-327 (9 Seiten) PDF als Volltext Verfügbarkeit
Sprache	englisch
Dokumenttyp	gedruckt; online; Zeitschriftenaufsatz
ISSN	1750-9467
DOI	10.1016/j.rasd.2009.10.006
Schlagwörter	Autism; Patients; Genetic Disorders; Etiology; Pervasive Developmental Disorders; Neurological Impairments; Developmental Disabilities; Clinical Diagnosis + Suchen Sie Ihr Suchwort? Autismus; Patient; Ätiologie; Neurodegenerative Erkrankung; Entwicklungsstörung
Abstract	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. (Contains 2 tables and 3 figures.) (As Provided).
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Erfasst von	ERIC (Education Resources Information Center), Washington, DC
Update	2017/4/10