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Case Reports
. 2007 Dec 18;9(4):60.

Autism spectrum disorder, Klinefelter syndrome, and chromosome 3p21.31 duplication: a case report

Scott W Stuart  1 , Casey H King, G Shashidar Pai
Affiliations
Case Reports

Autism spectrum disorder, Klinefelter syndrome, and chromosome 3p21.31 duplication: a case report

Scott W Stuart et al. MedGenMed. .

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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References

    1. APA. Diagnostic criteria from Quick Reference to the DSM-IV-TR. Washington, DC: American Psychiatric Association; 2000. pp. 59–61.
    1. Prevalence of autism spectrum disorder – autism and developmental disability monitoring network, 14 sites, United States, 2002. MMWR. 2007;56(SS-1):1–44. - PubMed
    1. Herman GE, Henninger N, Ratliff-Schaub K, et al. Genetic testing in autism: how much is enough? Genet Med. 2007;9:268–274. - PubMed
    1. Wassink TH, Losh M, Piven J, et al. Systematic screening for subtelomeric anomalies in a clinical sample of autism. J Autism Dev Disord. 2007;37:703–708. - PubMed
    1. Jha P, Sheth D, Ghaziuddin M. Autism spectrum disorder and Klinefelter syndrome. Eur Child Adolesc Psychiatry. 2007;16:305–308. - PubMed

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