ArticleJournal of autism and developmental disorders2014
Brief report: functional MRI of a patient with 7q11.23 duplication syndrome and autism spectrum disorder.
Article in Journal of autism and developmental disorders, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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Who cites it
8 citing papers in PubMed.
- 7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling.Brain sciences · 2020Article
- Genetic and Epigenetic Etiology Underlying Autism Spectrum Disorder.Journal of clinical medicine · 2020Review
- Detection of copy number disorders associated with congenital anomalies of the kidney and urinary tract in fetuses via single nucleotide polymorphism arrays.Journal of clinical laboratory analysis · 2020Article
- Copy number variations associated with fetal congenital kidney malformations.Molecular cytogenetics · 2020Article
- Transcription Factor 2I Regulates Neuronal Development via TRPC3 in 7q11.23 Disorder Models.Molecular neurobiology · 2019Article
- The 7q11.23 Microduplication Syndrome: A Clinical Report with Review of Literature.Journal of pediatric genetics · 2016Review
- 7q11.23 Duplication syndrome: Physical characteristics and natural history.American journal of medical genetics. Part A · 2015Article
- Children with 7q11.23 duplication syndrome: psychological characteristics.American journal of medical genetics. Part A · 2015Article
Corrections and comments
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Authors and funding
11 authors.
Funding
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Abstract
The duplication of the Williams-Beuren syndrome (WBS) region (7q11.23) is a copy number variant associated with autism spectrum disorder (ASD). One of the most intriguing aspects is that the reciprocal microdeletion causes WBS, characterized by hypersociability, marked empathy, and a relative capacity in verbal short-term memory and language. Herein, we studied, by using functional morphological and volumetric magnetic resonance, a 17-year-old male patient who displays a de novo 7q11.23 duplication and ASD. The limbic system of the patient appeared hypo-functional, while the total brain volume was increased, thus contrasting, in an opposite and intriguing manner, with the global brain volume reduction reported in WBS. Even if these findings come from the analysis of a single patient and, therefore, have to be considered preliminary results, they encourage carrying on further functional and volumetric studies in patients with 7q11.23 duplication, to fully elucidate the role of this gene-dosage alteration on brain development and limbic system function.
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