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Complex autism spectrum disorder in a patient with a 17q12 microduplication

Authors

  • Tracy Brandt,

    1. Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York, New York
    2. Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York
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  • Khyati Desai,

    1. Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York
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  • David Grodberg,

    1. Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York, New York
    2. Department of Psychiatry, Mount Sinai School of Medicine, New York, New York
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  • Lakshmi Mehta,

    1. Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York
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  • Ninette Cohen,

    1. Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York
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  • Ana Tryfon,

    1. Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York, New York
    2. Department of Psychiatry, Mount Sinai School of Medicine, New York, New York
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  • Alexander Kolevzon,

    1. Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York, New York
    2. Department of Psychiatry, Mount Sinai School of Medicine, New York, New York
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  • Latha Soorya,

    1. Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York, New York
    2. Department of Psychiatry, Mount Sinai School of Medicine, New York, New York
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  • Joseph D. Buxbaum,

    1. Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York, New York
    2. Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York
    3. Department of Psychiatry, Mount Sinai School of Medicine, New York, New York
    4. Department of Neuroscience, Mount Sinai School of Medicine, New York, New York
    5. Friedman Brain Institute, Mount Sinai School of Medicine, New York, New York
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  • Lisa Edelmann

    Corresponding author
    1. Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York
    • Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, One Gustave L. Levy Place, Box 1497, New York, NY 10029.

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    • Associate professor.


  • How to Cite this Article: Brandt T, Desai K, Grodberg D, Mehta L, Cohen N, Tryfon A, Kolevzon A, Soorya L, Buxbaum JD, Edelmann L. 2012. Complex autism spectrum disorder in a patient with a 17q12 microduplication. Am J Med Genet Part A. 158A:1170–1177.

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. © 2012 Wiley Periodicals, Inc.

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