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Tremor in 48,XXYY syndrome.
Mov Disord. 2009 Oct 15; 24(13):2001-7.MD

Abstract

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.

Authors+Show Affiliations

Department of Pediatrics, School of Medicine, University of Colorado Denver, Child Development Unit, The Children's Hospital, 13123 East 16th Ave, B-140, Aurora, Colorado 80045, USA. tartaglia.nicole@tchden.orgNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

19705466

Citation

Tartaglia, Nicole, et al. "Tremor in 48,XXYY Syndrome." Movement Disorders : Official Journal of the Movement Disorder Society, vol. 24, no. 13, 2009, pp. 2001-7.
Tartaglia N, Borodyanskaya M, Borodyanskya M, et al. Tremor in 48,XXYY syndrome. Mov Disord. 2009;24(13):2001-7.
Tartaglia, N., Borodyanskaya, M., Borodyanskya, M., & Hall, D. A. (2009). Tremor in 48,XXYY syndrome. Movement Disorders : Official Journal of the Movement Disorder Society, 24(13), 2001-7. https://doi.org/10.1002/mds.22700
Tartaglia N, et al. Tremor in 48,XXYY Syndrome. Mov Disord. 2009 Oct 15;24(13):2001-7. PubMed PMID: 19705466.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Tremor in 48,XXYY syndrome. AU - Tartaglia,Nicole, AU - Borodyanskaya,M, AU - Borodyanskya,Mariya, AU - Hall,Deborah A, PY - 2009/8/26/entrez PY - 2009/8/26/pubmed PY - 2010/1/12/medline SP - 2001 EP - 7 JF - Movement disorders : official journal of the Movement Disorder Society JO - Mov Disord VL - 24 IS - 13 N2 - 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. SN - 1531-8257 UR - https://www.unboundmedicine.com/medline/citation/19705466/Tremor_in_48XXYY_syndrome_ L2 - https://doi.org/10.1002/mds.22700 DB - PRIME DP - Unbound Medicine ER -