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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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.

 


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