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PMID: 17389126 Published · ppublish English Journal Article Review

Autism and cytogenetic abnormalities: solving autism one chromosome at a time.

Current psychiatry reports ·Vol. 9 ·No. 2 ·2007-04-00 ·Pages 141-7

Martin CL, Ledbetter DH

Abstract

Autism is a neurodevelopmental disorder characterized by impairments in social interactions, communication, and behavior. Multiple lines of evidence support the notion that most cases of autism likely have an underlying genetic cause or predisposition. Like mental retardation, autism is likely to be caused by many different genetic mechanisms and genes rather than a single, or few, major genes or environmental effects. In this review, we will focus on the cytogenetic contribution to uncovering regions of the genome involved in autism. Some common cytogenetic imbalances already known to cause autism will be highlighted. Routine genetic testing in clinical (CLIA-certified) diagnostic laboratories can identify the specific etiology and recurrence risk in 10% to 15% of autism cases and is clinically indicated for any child with autism. Powerful new methods for identifying novel regions of the genome causing or contributing to autism also will be discussed and will start to explain the etiology for some percentage of the remaining 85% to 90% of autism cases.

MeSH Terms
Adolescent Adult Allelic Imbalance/genetics Asperger Syndrome/diagnosis,genetics,psychology Autistic Disorder/diagnosis,genetics,psychology Child Child Development Disorders, Pervasive/diagnosis,genetics,psychology Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 15/genetics Chromosomes, Human, Pair 2/genetics Chromosomes, Human, Pair 22/genetics Fragile X Syndrome/diagnosis,genetics,psychology Gene Duplication Genetic Testing Genotype Humans Oligonucleotide Array Sequence Analysis Phenotype Social Environment
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Martin Christa Lese
Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA. [email protected]
Ledbetter David H
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Article Info
Journal
Current psychiatry reports
Abbr.
Curr Psychiatry Rep
ISSN
1523-3812
DOI
10.1007/s11920-007-0084-9
Email
[email protected]
Published
2007-04-00
Pages
141-7
Language
English
Region
United States
NLM ID
100888960
Subset
IM
External Links
PubMed source DOI: 10.1007/s11920-007-0084-9 View journal details
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