Tremor in 48,XXYY syndrome


  • Nicole Tartaglia MD,

    Corresponding author
    1. Department of Pediatrics, School of Medicine, University of Colorado Denver, Colorado, USA
    • Department of Pediatrics, University of Colorado Denver, School of Medicine, Child Development Unit, The Children's Hospital, 13123 East 16th Ave, B-140, Aurora, Colorado 80045
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  • Mariya Borodyanskya BA,

    1. Department of Pediatrics, M.I.N.D. Institute, University of California, Davis Medical Center, Sacramento, California, USA
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  • Deborah A. Hall MD, PhD

    1. Department of Neurology, School of Medicine, University of Colorado Denver, Colorado, USA
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This article is corrected by:

  1. Errata: Errata: Tremor in 48, XXYY Syndrome Volume 25, Issue 11, 1764, Article first published online: 15 August 2010

  • Potential conflict of interest: The authors report no conflict of interest.


The 48,XXYY syndrome is a form of sex chromosome aneuploidy presenting in 1:18,000 males. Tremor has been previously reported in 47,XXY and 47,XYY syndromes, but has not been well described in 48,XXYY syndrome. Ten males with 48,XXYY syndrome had a standardized neurological examination and videotaping, which included the Clinical Rating Scale for Tremor and the International Cooperative Ataxia Rating Scale. All 10 cases had postural and kinetic tremor on physical examination. Other findings included mild gait ataxia, dysarthria, and nystagmus. Three cases are reviewed. Tremor is a common finding in children and young adults with 48,XXYY syndrome. Dosage alteration of genes on the sex chromosomes may be involved in the pathogenesis of this tremor. Karyotyping should be considered in individuals presenting with tremor and a history of developmental delay, learning disabilities, tall stature, or microorchidism. © 2009 Movement Disorder Society