title: Complex autism spectrum disorder in a patient with a 17q12 microduplication.
abstract: Autism spectrum disorders (ASDs) are phenotypically complex developmental neuropsychiatric disorders affecting approximately 0.6% of the population. About 30-70% of affected children are also considered to have intellectual disability (ID). The underlying genetic causes of ASDs are diverse with a defined etiology in 16-20%. Array comparative genomic hybridization (aCGH) has proven useful in identifying sub-microscopic chromosome aberrations in a subset of patients, some of which have been shown to be recurrent. One such aberration is the 1.4 Mb microdeletion at chromosome 17q12, which has been reported to be associated with renal disease, growth restriction, diabetes, cognitive impairment, seizures, and in some cases an ASD. Patients with the reciprocal chromosome 17q12 microduplication typically have also been identified with ID and in some cases seizures and behavioral abnormalities. Here we report a patient with a de novo, 1.4 Mb microduplication diagnosed with significant ID involving complex deficits and autism. To our knowledge, this is the first report of a patient with the 17q12 microduplication and a complex ASD phenotype.
authors.affiliation: Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York, New York 100029, USA.
authors.forename: Tracy
authors.initials: T
authors.lastname: Brandt
authors.forename: Khyati
authors.initials: K
authors.lastname: Desai
authors.forename: David
authors.initials: D
authors.lastname: Grodberg
authors.forename: Lakshmi
authors.initials: L
authors.lastname: Mehta
authors.forename: Ninette
authors.initials: N
authors.lastname: Cohen
authors.forename: Ana
authors.initials: A
authors.lastname: Tryfon
authors.forename: Alexander
authors.initials: A
authors.lastname: Kolevzon
authors.forename: Latha
authors.initials: L
authors.lastname: Soorya
authors.forename: Joseph D
authors.initials: JD
authors.lastname: Buxbaum
authors.forename: Lisa
authors.initials: L
authors.lastname: Edelmann
mesh_terms: D002659:Child Development Disorders, Pervasive / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D058674:Chromosome Duplication; D002886:Chromosomes, Human, Pair 17; D055028:Comparative Genomic Hybridization; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010290:Parents