ArticleBehavior genetics2018
High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders.
Article in Behavior genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 29 citations in OpenAlex.
- Fetal Compound Heterozygous Microdeletion at 7q31.1 Involving IMMP2L: Case Report and Literature Review.Molecular genetics & genomic medicine · 2026Review
- Genome-wide copy number variation association study in anorexia nervosa.Molecular psychiatry · 2025Article
- Delineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients With Single-Gene BDH1 Duplications.Molecular genetics & genomic medicine · 2025Review
- Traversing the epigenetic landscape: DNA methylation from retina to brain in development and disease.Frontiers in cellular neuroscience · 2024Review
- Antioxidant Behavioural Phenotype in theGenes · 2023Article
- Rare CNVs and phenome-wide profiling highlight brain structural divergence and phenotypical convergence.Nature human behaviour · 2023Article
- High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders.Genes · 2023Article
- An ethical analysis of divergent clinical approaches to the application of genetic testing for autism and schizophrenia.Human genetics · 2022Article
- A familial 3q28q29 duplication induced mild intellectual disability: case presentation and literature review.American journal of translational research · 2022Article
- Diagnosis and Workup of Intellectual Disability in Adults: Suggested Strategies for the Adult Neurologist.Neurology. Clinical practice · 2021Review
- Next-generation gene panel testing in adolescents and adults in a medical neuropsychiatric genetics clinic.Neurogenetics · 2021Article
- A cross-comparison of cognitive ability across 8 genomic disorders.Current opinion in genetics & development · 2021Review
- The Role of Genetics in Bipolar Disorder.Current topics in behavioral neurosciences · 2021Article
- Mitochondrial Function in Gilles de la Tourette Syndrome Patients With and Without IntragenicFrontiers in neurology · 2020Article
- A Novel 3q29 Deletion in Association With Developmental Delay and Heart Malformation-Case Report With Literature Review.Frontiers in pediatrics · 2019Article
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A genetic analysis of unexplained mild-moderate intellectual disability and co-morbid psychiatric or behavioural disorders is not systematically conducted in adults. A cohort of 100 adult patients affected by both phenotypes were analysed in order to identify the presence of copy number variants (CNVs) responsible for their condition identifying a yield of 12.8% of pathogenic CNVs (19% when including clinically recognizable microdeletion syndromes). Moreover, there is a detailed clinical description of an additional 11% of the patients harbouring possible pathogenic CNVs-including a 7q31 deletion (IMMP2L) in two unrelated patients and duplications in 3q29, 9p24.2p24.1 and 15q14q15.1-providing new evidence of its contribution to the phenotype. This study adds further proof of including chromosomal microarray analysis (CMA) as a mandatory test to improve the diagnosis in the adult patients in psychiatric services.
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