title: [Case report: The child- and adolescent psychiatric phenotype of a brother and sister with 16p11.2 microduplication].
abstract: 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.
authors.forename: H C T
authors.initials: HC
authors.lastname: Afschrift
authors.forename: H C
authors.initials: HC
authors.lastname: van den Steene
authors.forename: M
authors.initials: M
authors.lastname: Dhar
authors.forename: D
authors.initials: D
authors.lastname: Van West
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D001289:Attention Deficit Disorder with Hyperactivity / Q000235:genetics*; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D010641:Phenotype; D056916:Segmental Duplications, Genomic