ArticleAmerican journal of medical genetics1998
22q11 deletion syndrome in adults with schizophrenia.
Article in American journal of medical genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 74 papers.
What it found
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Who cites it
74 citing papers in PubMed, 227 citations in OpenAlex.
- The feasibility and safety of S-adenosyl-L-methionine (SAMe) for the treatment of neuropsychiatric symptoms in 22q11.2 deletion syndrome: a double-blind placebo-controlled trial.Journal of neural transmission (Vienna, Austria : 1996) · 2012Trial
- Disentangling Psychopathology and Social Cognition in 22q11.2 Deletion Syndrome with Psychotic Symptoms and Schizophrenia.Schizophrenia bulletin open · 2026Article
- The Co-Occurrence of 22q11.2 Deletion Syndrome and Epithelial Basement Membrane Dystrophy: A Case Report and Review of the Literature.Life (Basel, Switzerland) · 2024Review
- Computer-vision analysis of craniofacial dysmorphology in 22q11.2 deletion syndrome and psychosis spectrum disorders.Journal of neurodevelopmental disorders · 2024Article
- Copy Number Variations in Neuropsychiatric Disorders.International journal of molecular sciences · 2023Review
- Current and Future Perspectives of Noncoding RNAs in Brain Function and Neuropsychiatric Disease.Biological psychiatry · 2022Review
- Neurodevelopmental Trajectories and Psychiatric Morbidity: Lessons Learned From the 22q11.2 Deletion Syndrome.Current psychiatry reports · 2021Review
- The abiding relevance of mouse models of rare mutations to psychiatric neuroscience and therapeutics.Schizophrenia research · 2020Article
- Neural anomalies during vigilance in schizophrenia: Diagnostic specificity and genetic associations.NeuroImage. Clinical · 2020Article
- PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus.Scientific reports · 2019Article
- The strengths of the genetic approach to understanding neural systems development and function: Ray Guillery's synthesis.The European journal of neuroscience · 2019Review
- Understanding the pediatric psychiatric phenotype of 22q11.2 deletion syndrome.American journal of medical genetics. Part A · 2018Review
- A neurogenetic model for the study of schizophrenia spectrum disorders: the International 22q11.2 Deletion Syndrome Brain Behavior Consortium.Molecular psychiatry · 2017Article
- White matter microstructural deficits in 22q11.2 deletion syndrome.Psychiatry research. Neuroimaging · 2017Article
- High-resolution copy number variation analysis of schizophrenia in Japan.Molecular psychiatry · 2017Article
- System-based proteomic and metabonomic analysis of the Df(16)AMolecular psychiatry · 2017Article
- The importance of understanding cognitive trajectories: the case of 22q11.2 deletion syndrome.Current opinion in psychiatry · 2016Review
- Genetics in child and adolescent psychiatry: methodological advances and conceptual issues.European child & adolescent psychiatry · 2015Review
- 22q11.2 deletion status and disease burden in children and adolescents with tetralogy of Fallot.Circulation. Cardiovascular genetics · 2015Article
- Keratoconus in an adult with 22q11.2 deletion syndrome.BMJ case reports · 2015Review
14 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
Genetic syndromes associated with deletions at chromosome 22q11 generally have been diagnosed during childhood based on a constellation of physical features. To investigate a reported association of velocardiofacial syndrome with psychotic disorders in adults, we assessed subjects with DSM-IV schizophrenia or schizoaffective disorder who were referred with two or more syndromal features (palatal, cardiac, facial, or other congenital anomalies, and/or learning difficulties). We report on 10 subjects (5 men and 5 women), mean age 27.2 (SD 6.0) years, who were found to have a 22q11 deletion at locus D22S75 using fluorescence in-situ hybridization (FISH). The mean age at onset of psychosis was 19.6 (SD 4.6) years. Symptoms and course of the psychotic illnesses were unremarkable, but additional signs such as temper outbursts were common. These adult subjects had significantly fewer major palatal (P = .0001) and conotruncal cardiac (P = .05) anomalies but the same high rate of learning difficulties as a sample with deletion 22q11 ascertained through a pediatric clinic [Lindsay et al. (1995): Am J Med Genet 57:514-522]. Minor congenital features and rate of transmitted cases were similar to those previously reported. These results replicate the association of a 22q11 deletion syndrome with schizophrenia and confirm the importance of ascertainment in influencing the phenotype found. The findings support a developmental gene in the 22q11 deletion region causing a complex phenotype which may include significant behavioral components that emerge over time. We support using the term "22q11 deletion syndrome (22DS)," which would encompass physical and psychiatric features, and could also be applied to describe a genetic subtype of schizophrenia.
Indexed as
Identifiers
9674980PMC3173497W2084955584What OpenQuestion holds
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.