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Case report
A 22q13.33 duplication harbouring the SHANK3 gene: does it cause neuropsychiatric disorders?
  1. Maria Johannessen1,
  2. Inger Breistein Haugen1,
  3. Trine Lise Bakken1 and
  4. Øivind Braaten2
  1. 1 Psychiatric Department, Oslo University Hospital, Oslo, Norway
  2. 2 Department of Medical Genetics, Oslo University Hospital, Oslo, Norway
  1. Correspondence to Dr Maria Johannessen; maria.johannessen{at}


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.

  • child and adolescent psychiatry
  • mood disorders (including depression)
  • genetic screening / counselling

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  • Contributors MJ authored the case reports and did the litterature search. IBH was involved in managing the patient when he was admitted. ØB was the attending clinical geneticist for the patient. TLB contributed with background literature and the design of the report. Critical review of the manuscript: MJ, IBH and ØB.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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