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ERIC Number: EJ878570
Record Type: Journal
Publication Date: 2010
Pages: 9
Abstractor: As Provided
Reference Count: 0
ISBN: N/A
ISSN: ISSN-1750-9467
Autism Spectrum Disorders Associated with Chromosomal Abnormalities
Lo-Castro, Adriana; Benvenuto, Arianna; Galasso, Cinzia; Porfirio, Cristina; Curatolo, Paolo
Research in Autism Spectrum Disorders, v4 n3 p319-327 Jul-Sep 2010
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.)
Elsevier. 6277 Sea Harbor Drive, Orlando, FL 32887-4800. Tel: 877-839-7126; Tel: 407-345-4020; Fax: 407-363-1354; e-mail: usjcs@elsevier.com; Web site: http://www.elsevier.com
Publication Type: Journal Articles; Reports - Evaluative
Education Level: N/A
Audience: N/A
Language: English
Sponsor: N/A
Authoring Institution: N/A