ArticleNeuroscience and behavioral physiology2007
Variability in the heterochromatin regions of the chromosomes and chromosomal anomalies in children with autism: identification of genetic markers of autistic spectrum disorders.
Article in Neuroscience and behavioral physiology, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
19 citing papers in PubMed.
- Dysregulation of heterochromatin caused by genomic structural variants may be central to autism spectrum disorder.Frontiers in molecular neuroscience · 2025Article
- Quantitative FISHing: Implications for Chromosomal Analysis.Methods in molecular biology (Clifton, N.J.) · 2024Article
- Cytogenomic epileptology.Molecular cytogenetics · 2023Review
- Klinefelter syndrome mosaicism in boys with neurodevelopmental disorders: a cohort study and an extension of the hypothesis.Molecular cytogenetics · 2022Article
- Turner's syndrome mosaicism in girls with neurodevelopmental disorders: a cohort study and hypothesis.Molecular cytogenetics · 2021Article
- Review
- Aneuploidy in stem cells.World journal of stem cells · 2016Review
- Complex intrachromosomal rearrangement in 1q leading to 1q32.2 microdeletion: a potential role of SRGAP2 in the gyrification of cerebral cortex.Molecular cytogenetics · 2016Article
- 3p22.1p21.31 microdeletion identifies CCK as Asperger syndrome candidate gene and shows the way for therapeutic strategies in chromosome imbalances.Molecular cytogenetics · 2015Article
- Long contiguous stretches of homozygosity spanning shortly the imprinted loci are associated with intellectual disability, autism and/or epilepsy.Molecular cytogenetics · 2015Article
- Xq28 (MECP2) microdeletions are common in mutation-negative females with Rett syndrome and cause mild subtypes of the disease.Molecular cytogenetics · 2013Article
- Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.Molecular cytogenetics · 2012Article
- Ontogenetic variation of the human genome.Current genomics · 2010Article
- Somatic genome variations in health and disease.Current genomics · 2010Article
- Cytogenetic, molecular-cytogenetic, and clinical-genealogical studies of the mothers of children with autism: a search for familial genetic markers for autistic disorders.Neuroscience and behavioral physiology · 2010Article
- Molecular cytogenetic diagnosis and somatic genome variations.Current genomics · 2010Article
- Molecular cytogenetics and cytogenomics of brain diseases.Current genomics · 2008Article
- De novo balanced translocation t (7;16) (p22.1; p11.2) associated with autistic disorder.Journal of biomedicine & biotechnology · 2008Article
- Genetic testing in children with autism spectrum disorders.Anadolu psikiyatri dergisiArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cytogenetic and molecular cytogenetic analysis of children with autism (90 subjects) and their mothers (18 subjects) is presented. Anomalies and fragility were found in chromosome X in four cases of autism: mos 47,XXX[98]/46, XX[2]; 46,XY,r(22)(p11q13); 46,XY,inv(2)(p11.2q13),16qh-; and 46,Y,fra(X)(q27.3),16qh-. C staining and quantitative fluorescent in situ hybridization (FISH) were used to demonstrate a significant increase in the frequency of variations in the heterochromatin regions of chromosomes in children with autism as compared with a control group (48% and 16% respectively). Pericentric chromosome inversion 9phqh was not characteristic of patients with autism, while variation in heterochromatin regions 1phqh, 9qh+, and 16qh-were found significantly more frequently in children with autism. These data provide the basis for discussing the possible role of the gene position effect in the pathogenesis of autism and the possible search for biological markers of autistic disorders.
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