TY - JOUR T1 - A 22q13.33 duplication harbouring the SHANK3 gene: does it cause neuropsychiatric disorders? JF - BMJ Case Reports JO - BMJ Case Reports DO - 10.1136/bcr-2018-228258 VL - 12 IS - 11 SP - e228258 AU - Maria Johannessen AU - Inger Breistein Haugen AU - Trine Lise Bakken AU - Øivind Braaten Y1 - 2019/11/01 UR - http://casereports.bmj.com/content/12/11/e228258.abstract N2 - 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. ER -