ArticleJournal of autism and developmental disorders2007
Characterization of an autism-associated segmental maternal heterodisomy of the chromosome 15q11-13 region.
Article in Journal of autism and developmental disorders, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- Exploring the Landscape of Pre- and Post-Synaptic Pediatric Disorders with Epilepsy: A Narrative Review on Molecular Mechanisms Involved.International journal of molecular sciences · 2024Review
- Sporadic Pseudohypoparathyroidism Type 1B in Monozygotic Twins: Insights Into the Pathogenesis of Methylation Defects.The Journal of clinical endocrinology and metabolism · 2022Article
- Common Ribs of Inhibitory Synaptic Dysfunction in the Umbrella of Neurodevelopmental Disorders.Frontiers in molecular neuroscience · 2018Review
- Article
- Synaptic proteins and receptors defects in autism spectrum disorders.Frontiers in cellular neuroscience · 2014Review
- Epigenetic findings in autism: new perspectives for therapy.International journal of environmental research and public health · 2013Review
- A nine-month-old boy with isodicentric chromosome 15: a case report.Annals of rehabilitation medicine · 2013Article
- Allele-biased expression in differentiating human neurons: implications for neuropsychiatric disorders.PloS one · 2012Article
- Mouse models of autism: testing hypotheses about molecular mechanisms.Current topics in behavioral neurosciences · 2011Article
- Gene discovery through imaging genetics: identification of two novel genes associated with schizophrenia.Molecular psychiatry · 2009Article
- Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplications and identification of a novel microduplication in ASMT.BMC medical genomics · 2008Article
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Authors and funding
3 authors.
Funding
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Abstract
Cytogenetic abnormalities in the Prader-Willi/Angelman syndrome (PWS/AS) critical region have been described in individuals with autism. Maternal duplications and linkage disequilibrium in families with autism suggest the existence of a susceptibility locus at 15q11-q13. Here, we describe a 6-year-old girl diagnosed with autism, developmental delay, and delayed expressive and receptive language. The karyotype was designated de novo 47, XX, idic(15)(q13). Fluorescence in situ hybridization (FISH) and molecular analysis with 15q11-q13 markers revealed an additional copy of the region being of maternal origin. Duplication of the 15q11-q13 segment represents the most consistent known chromosomal abnormality reported in association with autism. This present case report reinforces the hypothesis that additional copies of this chromosome segment are causally related to autism.
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