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A de novo direct duplication of 16q22.1 → q23.1 in a boy with midface hypoplasia and mental retardation

Authors

  • Tomoharu Tokutomi,

    Corresponding author
    1. Department of Child Neurology, National Center Hospital of Neurology and Psychiatry, Kodaira, Tokyo, Japan
    2. Department of Pathology and Laboratory Medicine, National Defense Medical College, Tokorozawa, Saitama, Japan
    • Department of Pathology and Laboratory Medicine, National Defense Medical College, 3-2 Namiki, Tokorozawa, Saitama 359-8513, Japan.
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  • Takahito Wada,

    1. Department of Preventive Medicine and Public Health, Shinshu University School of Medicine, Matsumoto, Nagano, Japan
    2. Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Nagano, Japan
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  • Eiji Nakagawa,

    1. Department of Child Neurology, National Center Hospital of Neurology and Psychiatry, Kodaira, Tokyo, Japan
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  • Shinji Saitoh,

    1. Department of Pediatrics, Graduate School of Medicine, Hokkaido University School of Medicine, Sapporo, Hokkaido, Japan
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  • Masayuki Sasaki

    1. Department of Child Neurology, National Center Hospital of Neurology and Psychiatry, Kodaira, Tokyo, Japan
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  • How to cite this article: Tokutomi T, Wada T, Nakagawa E, Saitoh S, Sasaki M. 2009. A de novo direct duplication of 16q22.1 → q23.1 in a boy with midface hypoplasia and mental retardation. Am J Med Genet Part A 149A:2560–2563.

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