ReviewBiological psychiatry1999
22q11 deletion syndrome: a genetic subtype of schizophrenia.
Review in Biological psychiatry, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 122 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
122 citing papers in PubMed, 1 synthesis or guideline pooled it, 328 citations in OpenAlex.
- Neurocognitive Functioning in Patients with 22q11.2 Deletion Syndrome: A Meta-Analytic Review.Behavior genetics · 2018Pooled it
- Multiscale characterization of cortical signatures in positive and negative schizotypy: a worldwide ENIGMA study.Molecular psychiatry · 2026Article
- Genome-wide tandem repeat expansions modify schizophrenia risk in the presence of a 22q11.2 deletion.Molecular psychiatry · 2026Article
- GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy.Molecular psychiatry · 2026Article
- Auditory and Visual Thalamocortical Connectivity Alterations in Unmedicated People With Schizophrenia: An Individualized Sensory Thalamic Localization and Resting-State Functional Connectivity Study.Biological psychiatry. Cognitive neuroscience and neuroimaging · 2025Article
- Dissecting the Phenotypic Spectrum and Complexity of Movement Disorders in 22q11.2 Deletion Syndrome.European journal of neurology · 2025Article
- Sleep difficulties related to psychopathology and neurocognition in people with 22q11.2 deletion syndrome.Psychiatry research · 2025Article
- Auditory and Visual Thalamocortical Connectivity Alterations in Unmedicated People with Schizophrenia: An Individualized Sensory Thalamic Localization and Resting-State Functional Connectivity Study.medRxiv : the preprint server for health sciences · 2024Article
- Tbx1 haploinsufficiency leads to local skull deformity, paraflocculus and flocculus dysplasia, and motor-learning deficit in 22q11.2 deletion syndrome.Nature communications · 2024Article
- Thalamic contributions to psychosis susceptibility: Evidence from co-activation patterns accounting for intra-seed spatial variability (μCAPs).Human brain mapping · 2024Article
- Exploring pathway interactions to detect molecular mechanisms of disease: 22q11.2 deletion syndrome.Orphanet journal of rare diseases · 2023Article
- Event-related potential (ERP) markers of 22q11.2 deletion syndrome and associated psychosis.Journal of neurodevelopmental disorders · 2023Review
- Combinations of genes at the 16p11.2 and 22q11.2 CNVs contribute to neurobehavioral traits.PLoS genetics · 2023Article
- New insights from the last decade of research in psychiatric genetics: discoveries, challenges and clinical implications.World psychiatry : official journal of the World Psychiatric Association (WPA) · 2023Article
- A Comprehensive Analysis of Cerebellar Volumes in the 22q11.2 Deletion Syndrome.Biological psychiatry. Cognitive neuroscience and neuroimaging · 2023Article
- microRNA-dependent regulation of gene expression in GABAergic interneurons.Frontiers in cellular neuroscience · 2023Review
- Copy Number Variant Risk Scores Associated With Cognition, Psychopathology, and Brain Structure in Youths in the Philadelphia Neurodevelopmental Cohort.JAMA psychiatry · 2022Article
- Early visual processing and adaptation as markers of disease, not vulnerability: EEG evidence from 22q11.2 deletion syndrome, a population at high risk for schizophrenia.Schizophrenia (Heidelberg, Germany) · 2022Article
- Current and Future Perspectives of Noncoding RNAs in Brain Function and Neuropsychiatric Disease.Biological psychiatry · 2022Review
- Modeling human congenital disorders with neural crest developmental defects using patient-derived induced pluripotent stem cells.Regenerative therapy · 2021Review
62 more citing papers are in PubMed but not listed here.
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
Schizophrenia is likely to be caused by several susceptibility genes and may have environmental factors that interact with susceptibility genes and/or nongenetic causes. Recent evidence supports the likelihood that 22q11 Deletion Syndrome (22qDS) represents an identifiable genetic subtype of schizophrenia. 22qDS is an under-recognized genetic syndrome associated with microdeletions on chromosome 22 and a variable expression that often includes mild congenital dysmorphic features, hypernasal speech, and learning difficulties. Initial evidence indicates that a minority of patients with schizophrenia (approximately 2%) may have 22qDS and that prevalence may be somewhat higher in subpopulations with developmental delay. This paper proposes clinical criteria (including facial features, learning disabilities, hypernasal speech, congenital heart defects and other congenital anomalies) to aid in identifying patients with schizophrenia who may have this subtype and outlines features that may increase the index of suspicion for this syndrome. Although no specific causal gene or genes have yet been identified in the deletion region, 22qDS may represent a more homogeneous subtype of schizophrenia. This subtype may serve as a model for neurodevelopmental origins of schizophrenia that could aid in delineating etiologic and pathogenetic mechanisms.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.