Autism Spectrum Disorder, Klinefelter Syndrome, and Chromosome 3p21.31 Duplication: A Case Report

Scott W. Stuart, MD, MS; Casey H. King, BA; G. Shashidar Pai, MD

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Introduction

Autism spectrum disorders (ASDs) are a heterogeneous group of neurobehavioral disorders characterized by impaired social interactions and communication skills and by restrictive, stereotypic behaviors.[1] The prevalence in the United States is approximately 1:150, with a 3-4:1 male-to-female ratio.[2] Although many hypotheses for a cause have been postulated, a definitive cause can be identified in only a small proportion of patients with ASD.[3]

We report on a boy who met DSM-IV criteria for autistic disorder in whom genetic studies revealed classic Klinefelter syndrome (KS) 47, XXY karyotype, while comparative genomic hybridization (CGH) microarray analysis demonstrated 3p21.31 duplication. Although autism in conjunction with KS has been reported previously in the literature, [3,4,5,6,7,8] the relevance of the 3p21.31 duplication has not.

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