ArticleEuropean journal of human genetics : EJHG2016
Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders.
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genetic landscape of congenital pouch colon: systematic review and functional enrichment study.Pediatric surgery international · 2024Pooled it
- Recurrent Copy Number Variants and Psychiatric Outcomes in the Context of Polygenic Scores.JAMA psychiatry · 2026Article
- Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review.Orphanet journal of rare diseases · 2024Article
- Pathogenic Copy Number Variations Involved in the Genetic Etiology of Syndromic and Non-Syndromic Intellectual Disability-Data from a Romanian Cohort.Diagnostics (Basel, Switzerland) · 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
- Diagnostic Usefulness of MLPA Techniques for Recurrent Copy Number Variants Detection in Global Developmental Delay/Intellectual Disability.International journal of general medicine · 2021Article
- High Rates of Genetic Diagnosis in Psychiatric Patients with and without Neurodevelopmental Disorders: Toward Improved Genetic Diagnosis in Psychiatric Populations.Canadian journal of psychiatry. Revue canadienne de psychiatrie · 2020Article
- Chromosomal Microarray Analysis in Turkish Patients with Unexplained Developmental Delay and Intellectual Developmental Disorders.Noro psikiyatri arsivi · 2020Article
- What neuroscience has already done for us.BJPsych bulletin · 2020Article
- [Breakthrough in understanding the molecular causes of psychiatric disorders].Der Nervenarzt · 2019Review
- Chromosomal Aberrations in Pediatric Patients with Developmental Delay/Intellectual Disability: A Single-Center Clinical Investigation.BioMed research international · 2019Article
- Article
- High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders.Behavior genetics · 2018Article
- Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2018Article
- Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disorders.The British journal of psychiatry : the journal of mental science · 2018Article
- Genetic testing in intellectual disability psychiatry: Opinions and practices of UK child and intellectual disability psychiatrists.Journal of applied research in intellectual disabilities : JARID · 2018Article
- Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach.Dialogues in clinical neuroscience · 2017Review
- Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia.Genome medicine · 2017Article
- Genomic Disorders in Psychiatry-What Does the Clinician Need to Know?Current psychiatry reports · 2017Review
Corrections and comments
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Authors and funding
21 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Chromosomal copy-number variations (CNVs) are a class of genetic variants highly implicated in the aetiology of neurodevelopmental disorders, including intellectual disabilities (ID), schizophrenia and autism spectrum disorders (ASD). Yet the majority of adults with idiopathic ID presenting to psychiatric services have not been tested for CNVs. We undertook genome-wide chromosomal microarray analysis (CMA) of 202 adults with idiopathic ID recruited from community and in-patient ID psychiatry services across England. CNV pathogenicity was assessed using standard clinical diagnostic methods and participants underwent comprehensive medical and psychiatric phenotyping. We found an 11% yield of likely pathogenic CNVs (22/202). CNVs at recurrent loci, including the 15q11-q13 and 16p11.2-p13.11 regions were most frequently observed. We observed an increased frequency of 16p11.2 duplications compared with those reported in single-disorder cohorts. CNVs were also identified in genes known to effect neurodevelopment, namely NRXN1 and GRIN2B. Furthermore deletions at 2q13, 12q21.2-21.31 and 19q13.32, and duplications at 4p16.3, 13q32.3-33.3 and Xq24-25 were observed. Routine CMA in ID psychiatry could uncover ~11% new genetic diagnoses with potential implications for patient management. We advocate greater consideration of CMA in the assessment of adults with idiopathic ID presenting to psychiatry services.
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