Chromosomal disorders and autism
Abstract
Many cases of autism appear to be caused by several abnormal genes acting in concert. The literature on chromosomal aberrations in autism is reviewed, with a view to finding potential gene markers for the neuropsychiatric disorder. Most of the chromosomes have been implicated in the genesis of autism. However, aberrations on the long arm of Chromosome 15 and numerical and structural abnormalities of the sex chromosomes have been most frequently reported. These chromosomes appear to hold particular promise in the search for candidate genes.
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Large cytogenetically detectable chromosomal abnormalities, including maternal 15q11-13 duplication and 22q11.2 microdeletion, occur recurrently in small proportions of idiopathic autism and schizophrenia, respectively.
“In addition, large cytogenetically-detectable chromosomal abnormalities, including maternally inherited duplication of chromosome 15q11-13 and microdeletions of 22q11.2, were also known to occur recurrently in a small proportion of idiopathic autism cases (Gillberg, 1998) and in schizophrenia (Murphy et al., 1999) respectively.”
From CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics (2012) · cites this paper as Gillberg, 1998
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References 75 · Cited by 237
- Authors
- Gillberg, C.
- Affiliations
- University of Gothenburg (SE)
- Corresponding author
- Gillberg, Christopher
- Venue
- Journal of Autism and Developmental Disorders
- Published
- 1998-10
- Volume
- 28
- Issue
- 5
- Pages
- 415-425
- ISSN
- 0162-3257 (ISSN-L)
- 1573-3432
- OpenAlex
- W1592962813
- Cited by
- 237
- References
- 75
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 3 · 2021: 2 · 2020: 1 · 2018: 3 · 2017: 7 · 2016: 4 · 2015: 5 · 2014: 6 · 2013: 8 · 2012: 15
- FWCI
- 7.43
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- Locations
- Journal of Autism and Developmental Disorders (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- autism spectrum disorder, chromosomal abnormalities, chromosome 15q11-q13, sex chromosome abnormalities, candidate genes, genetic markers, neuropsychiatric disorders, genetic susceptibility
- MeSH terms
- Autistic Disorder, Chromosome Aberrations, Female, Genetic Markers, Humans, Male, Sex Chromosomes, Chromosome Disorders
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