ReviewCold Spring Harbor molecular case studies2019
22q11.2 duplication: a review of neuropsychiatric correlates and a newly observed case of prototypic sociopathy.
Review in Cold Spring Harbor molecular case studies, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 12 citations in OpenAlex.
- Chromosome 22q11.2 Microduplication Syndrome: A Review of the Literature and 12 New Cases.Genes · 2026Review
- Preliminary study of noninvasive prenatal screening for 22q11.2 deletion/duplication syndrome using multiplex dPCR assay.Orphanet journal of rare diseases · 2023Article
- Biallelic ZBTB11 variants associated with complex neuropsychiatric phenotype featuring Tourette syndrome.Brain : a journal of neurology · 2023Article
- 22q11.2 recurrent copy number variation-related syndrome: a retrospective analysis of our own microarray cohort and a systematic clinical overview of ClinGen curation.Translational pediatrics · 2021Article
- Toward Actionable Practice Parameters for "Dual Diagnosis": Principles of Assessment and Management for Co-Occurring Psychiatric and Intellectual/Developmental Disability.Current psychiatry reports · 2020Review
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
Callous-unemotional (CU) traits are highly disabling behavioral characteristics, common predictors of delinquency and criminality, and pathognomonic for antisocial personality disorder. They are highly heritable, but their specific molecular genetic causes are unknown. Here, we briefly review the literature on neuropsychiatric correlates of 22q11.2 duplication and describe a newly identified case of a 737-kb microduplication within the low copy repeat (LCR) B-D region, involving a 13-yr-old early adoptee with mild developmental delay and severe, chronic antisocial behavior of early childhood onset. When psychiatric symptoms have been reported in relation to duplications in this specific region, 19% of the reports feature aggression-but never previously CU traits-as a component of the phenotype. We discuss the potential implications of gain of function in this chromosomal region for heritable origins of sociopathy and their possible relation to genetic influences on aggression.
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Registered trials
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