title: Autism spectrum disorder, Klinefelter syndrome, and chromosome 3p21.31 duplication: a case report.
abstract: Autism spectrum disorders are heterogeneous in nature with idiopathic and genetic origins. We present a 7-year-old boy with a long history of multiple behavioral concerns, poor school performance, repetitive/compulsive tendencies, poor social skills, and language delays. A multidisciplinary evaluation concluded that the patient met full criteria for autism. A genetic evaluation demonstrated Klinefelter syndrome 47, XXY karyotype with concurrent duplication of 3p21.31 by microarray analysis. Maternal genetic analysis demonstrated the same 3p21.31 duplication. The potential implication with regard to autism spectrum disorders has not been previously discussed in the literature.
authors.affiliation: Developmental Pediatrics Medical University of South Carolina, Children's Hospital, Charleston, South Carolina, USA. stuarts@musc.edu
authors.forename: Scott W
authors.initials: SW
authors.lastname: Stuart
authors.forename: Casey H
authors.initials: CH
authors.lastname: King
authors.forename: G Shashidar
authors.initials: GS
authors.lastname: Pai
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001321:Autistic Disorder / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations; D002891:Chromosomes, Human, Pair 21; D002658:Developmental Disabilities / Q000235:genetics; D005500:Follow-Up Studies; D006801:Humans; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000175:diagnosis / Q000235:genetics*; D008297:Male