{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T07:27:58Z","timestamp":1790148478593,"version":"4.0.1"},"reference-count":24,"publisher":"BMJ","issue":"11","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2019,9,26]]},"published-print":{"date-parts":[[2019,11]]},"abstract":"<jats:p>A young man with neuropsychiatric problems has a small 22q13.33 duplication. We suggest this causes his condition. His disorder may represent a 22q13.33 behavioural phenotype. In childhood, he was diagnosed with mild intellectual disability. He was later diagnosed with Tourette syndrome, atypical autism spectrum disorder and bipolar disorder. Lithium seems effective in treating his affective symptoms. He has mild dysmorphic features, full lips and protruding ears. An array comparative genomic hybridisation showed a 300 kb duplication. The duplication harbours several genes, notably SH3 and multiple ankyrin repeat domain 3 (SHANK 3). The small size helps focus on a critical region for a 22q13.33 duplication syndrome. Mutations, deletions and duplications should be kept in mind as causes of neuropsychiatric disorders, especially in a patient with dysmorphic traits.<\/jats:p>","DOI":"10.1136\/bcr-2018-228258","type":"journal-article","created":{"date-parts":[[2019,11,2]],"date-time":"2019-11-02T10:09:21Z","timestamp":1572689361000},"page":"e228258","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":11,"title":["A 22q13.33 duplication harbouring the SHANK3 gene: does it cause neuropsychiatric disorders?"],"prefix":"10.1136","volume":"12","author":[{"given":"Maria","family":"Johannessen","sequence":"first","affiliation":[{"name":"Psychiatric Department, Oslo University Hospital, Oslo, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inger Breistein","family":"Haugen","sequence":"additional","affiliation":[{"name":"Psychiatric Department, Oslo University Hospital, Oslo, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Trine Lise","family":"Bakken","sequence":"additional","affiliation":[{"name":"Psychiatric Department, Oslo University Hospital, Oslo, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00d8ivind","family":"Braaten","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Oslo University Hospital, Oslo, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2019,11,2]]},"reference":[{"key":"2025082804320222000_12.11.e228258.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2012.02.039"},{"key":"2025082804320222000_12.11.e228258.2","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)80809-0"},{"key":"2025082804320222000_12.11.e228258.3","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMcibr1104261"},{"key":"2025082804320222000_12.11.e228258.4","doi-asserted-by":"crossref","DOI":"10.3389\/fnmol.2018.00250","article-title":"Integrative Brain Transcriptome Analysis Reveals Region-Specific and Broad Molecular Changes in Shank3-Overexpressing Mice","volume":"11","author":"Jin","year":"2018","journal-title":"Front Mol Neurosci"},{"key":"2025082804320222000_12.11.e228258.5","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.8.575"},{"key":"2025082804320222000_12.11.e228258.6","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0906232107"},{"key":"2025082804320222000_12.11.e228258.7","doi-asserted-by":"publisher","DOI":"10.1038\/nature12630"},{"key":"2025082804320222000_12.11.e228258.8","doi-asserted-by":"crossref","first-page":"2804","DOI":"10.1002\/ajmg.a.31771","article-title":"22q13 microduplication in two patients with common clinical manifestations: a recognizable syndrome?","volume":"143A","author":"Okamoto","year":"2007","journal-title":"Am J Med Genet A"},{"key":"2025082804320222000_12.11.e228258.9","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00819.x"},{"key":"2025082804320222000_12.11.e228258.10","unstructured":"Destr\u00e9e A , Hilbert P , Boulanger S , et al . A 273-kb duplication at 22q13.33 encompassing the Shank3 gene in 2 sibs with microcephaly, behavioral disorder and learning disabilities. European Society of human genetics conference 2011, P02.034. Eur J Hum Genet 2011;19(suppl 2)."},{"key":"2025082804320222000_12.11.e228258.11","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1097\/YPG.0000000000000151","article-title":"Clinical and molecular characterization of three genomic rearrangements at chromosome 22q13.3 associated with autism spectrum disorder","volume":"27","author":"Chen","year":"2017","journal-title":"Psychiatr Genet"},{"key":"2025082804320222000_12.11.e228258.12","doi-asserted-by":"publisher","DOI":"10.1038\/nature09146"},{"key":"2025082804320222000_12.11.e228258.13","unstructured":"O-OMIi M . 22q13 duplication syndrome, 2019. Available: omim.org\/entry\/615538"},{"key":"2025082804320222000_12.11.e228258.14","unstructured":"Bacino CA . Microduplication syndromes: UpToDate, 2018. 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In: Fletcher RJ , Barnhill J , Cooper S-A , eds. Diagnostic manual \u2013 intellectual disability. DM-ID 2. New York: The NADD Press, 2016."},{"key":"2025082804320222000_12.11.e228258.22","doi-asserted-by":"crossref","unstructured":"Helverschou SB , Bakken TL , Martinsen H . Psychiatric disorders in people with autism spectrum disorders: phenomenology and recognition. International Handbook of autism and pervasive developmental disorders. Springer, 2011.","DOI":"10.1007\/978-1-4419-8065-6_5"},{"key":"2025082804320222000_12.11.e228258.23","doi-asserted-by":"crossref","DOI":"10.1186\/s12888-015-0490-1","article-title":"Lithium as a rescue therapy for regression and catatonia features in two Shank3 patients with autism spectrum disorder: case reports","volume":"15","author":"Serret","year":"2015","journal-title":"BMC Psychiatry"},{"key":"2025082804320222000_12.11.e228258.24","doi-asserted-by":"crossref","unstructured":"Egger JIM , Verhoeven WMA , Groenendijk-Reijenga R , et al . Phelan-McDermid syndrome due to SHANK3 mutation in an intellectually disabled adult male: successful treatment with lithium. BMJ Case Rep 2017;2017. doi:doi:10.1136\/bcr-2017-220778. 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