Distal 1q21.1 and proximal 1q21.2 microduplication in a child with attention-deficit hyperactivity disorder

Excerpt

Attention-deficit hyperactivity disorder (ADHD) is the most common neurodevelopmental disorder in children and adolescents and is characterized by functionally disabling inattention, hyperactivity, and/or impulsivity [1]. With a heritability of 60–75%, ADHD’s genetic underpinnings have been gaining increasing attention [2]. A number of microduplications, i.e. genomic regions with copies of genetic information not typically found within the broader healthy population, have been reported to confer susceptibility to ADHD [3, 4]. One such microduplication region is on the chromosome 1q21.1 associated with a wide phenotypic spectrum [3]. We describe a 7-year-old, otherwise healthy, girl with ADHD who was found to have distal 1q21.1 microduplication. …