RT Journal Article SR Electronic T1 A 22q13.33 duplication harbouring the SHANK3 gene: does it cause neuropsychiatric disorders? JF BMJ Case Reports JO BMJ Case Reports FD BMJ Publishing Group Ltd SP e228258 DO 10.1136/bcr-2018-228258 VO 12 IS 11 A1 Maria Johannessen A1 Inger Breistein Haugen A1 Trine Lise Bakken A1 Øivind Braaten YR 2019 UL http://casereports.bmj.com/content/12/11/e228258.abstract AB 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.