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Tijdschrift voor Psychiatrie 58 (2016) 4, 318 - 322

Case report

Case report: The child- and adolescent psychiatric phenotype of a brother and sister with 16p11.2 microduplication

H.C.T. Afschrift*, H.C. Van den Steene, M. Dhar, D. Van West


16p11.2 microduplication is linked with a vulnerability for a range of psychiatric and somatic problems, with variable expression and penetration rate. We discuss the phenotypical expression of this microduplication with the case of a brother and sister. Both subjects went through child psychiatric diagnostics and treatment, where a varying degree of developmental delay and symptoms that match an attention deficit/hyperactivity disorder were observed in combination with short stature and low body mass index.

keywords 16p11.2 microduplication; phenotype; siblings