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Vertebral fusion in a patient with supernumerary-der(22)t(11;22) syndrome

Authors

  • Mitsuo Toyoshima,

    Corresponding author
    1. Department of Pediatrics, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima City, Kagoshima, Japan
    • Department of Pediatrics, Graduate School of Medical and Dental Sciences, Kagoshima University, 8-35-1 Sakuragaoka, Kagoshima City, Kagoshima 890-8520, Japan.

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  • Chihiro Yonee,

    1. Department of Pediatrics, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima City, Kagoshima, Japan
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  • Yoshihiro Maegaki,

    1. Division of Child Neurology, Institute of Neurological Science, Tottori University Faculty of Medicine, Yonago City, Tottori, Japan
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  • Toshiyuki Yamamoto,

    1. International Research and Educational Institute for Integrated Medical Sciences (IREIIMS), Tokyo Women's Medical University, Tokyo, Japan
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  • Keiko Shimojima,

    1. International Research and Educational Institute for Integrated Medical Sciences (IREIIMS), Tokyo Women's Medical University, Tokyo, Japan
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  • Shinsuke Maruyama,

    1. Department of Pediatrics, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima City, Kagoshima, Japan
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  • Yoshifumi Kawano

    1. Department of Pediatrics, Graduate School of Medical and Dental Sciences, Kagoshima University, Kagoshima City, Kagoshima, Japan
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  • How to cite this article: Toyoshima M, Yonee C, Maegaki Y, Yamamoto T, Shimojima K, Maruyama S, Kawano Y. 2009. Vertebral fusion in a patient with supernumerary-der(22)t(11;22) syndrome. Am J Med Genet Part A 149A:1722–1726.

Abstract

A patient with a 47,XX,+der(22)t(11;22)(q23.3;q11.2) karyotype exhibited brisk tendon reflex and Babinski sign with suggested pyramidal sign. A three-dimensional computed tomographic reconstruction revealed a T1-T2 vertebral fusion without hemivertebrae. Sagittal magnetic resonance imaging revealed degenerative disk changes, mild disk herniation, and mild spinal cord compression. Congenital vertebral fusion may be one of the anomalies in supernumerary-der(22)t(11;22) syndrome. Once clinical diagnosis of this chromosome aberration is established, radiologic evaluation of vertebrae and spinal neuroimaging should be performed. © 2009 Wiley-Liss, Inc.

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