ArticleNeuropsychopharmacology reports2023
Clinical characterization of patients with schizophrenia and 16p13.11 duplication: A case series.
Article in Neuropsychopharmacology reports, 2023. 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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5 citing papers in PubMed, 8 citations in OpenAlex.
- Prenatal diagnosis of fetuses with ultrasound soft markers.BMC pregnancy and childbirth · 2025Article
- 16p13.11 microduplication in 14 fetuses: prenatal diagnosis and postnatal follow-up.Molecular cytogenetics · 2025Article
- Perturbed cell fate decision by schizophrenia-associated AS3MTScience advances · 2025Article
- Whole-genome sequencing analysis of Japanese autism spectrum disorder trios.Psychiatry and clinical neurosciences · 2025Article
- Clinical characterization of patients with schizophrenia and 16p13.11 duplication: A case series.Neuropsychopharmacology reports · 2023Article
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Authors and funding
7 authors at 3 institutions in 1 country.
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Abstract
backgroundChromosome 16p13.11 duplication is a well-known genetic risk factor for schizophrenia (SCZ) (odds ratio = 1.84). However, no case reports focusing on patients with SCZ and 16p13.11 duplication have been published. Therefore, here, we report the detailed clinical cases of four patients with SCZ and 16p13.11 duplication who were identified in our previous whole-genome copy number variant (CNV) study. CASE PRESENTATION: In the four patients with SCZ and 16p13.11 duplication detected by array comparative genomic hybridization, one patient was found to have treatment-resistant SCZ and an additional pathogenic rare CNV. Two of the four patients in this study had environmental risk factors that may have been involved in the development of SCZ.
conclusionsThe results of this case series suggest that a genetic cohort study would be useful for evaluating which genetic and environmental risk factors could better explain the variable expressivity of 16p13.11 duplication. Furthermore, this work could be useful for elucidating the pathophysiology of SCZ.
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