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48, XXYY syndrome associated tremor.
Pract Neurol. 2013 Aug; 13(4):249-53.PN

Abstract

48, XXYY syndrome is a form of sex chromosome aneuploidy that affects between 1 in 18 000 to 1 in 40 000 males. It is not inherited and is diagnosed by karyotyping. It has similarities to 47, XXY Klinefelter's syndrome, with tall stature, micro-orchidism, hypergonadotropic hypogonadism and infertility in males. However, patients with 48, XXYY syndrome also commonly have dental problems, tremor, attention deficit disorder, learning difficulties, allergies and asthma. The tremor is typically reported as an intention tremor (in 71% of patients XXYY aged >20 years with 48), which becomes more common with age and worsens over time.

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Authors+Show Affiliations

Lote H
Department of Neurosciences, Imperial College London, Charing Cross Hospital Campus, London, UK.
Fuller GN
No affiliation info available
Bain PG
No affiliation info available

MeSH

ElectromyographyHumansKlinefelter SyndromeMagnetic Resonance ImagingMaleTomography, Emission-Computed, Single-PhotonTremorTropanesYoung Adult

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

23487807

Citation

Lote, Hazel, et al. "48, XXYY Syndrome Associated Tremor." Practical Neurology, vol. 13, no. 4, 2013, pp. 249-53.
Lote H, Fuller GN, Bain PG. 48, XXYY syndrome associated tremor. Pract Neurol. 2013;13(4):249-53.
Lote, H., Fuller, G. N., & Bain, P. G. (2013). 48, XXYY syndrome associated tremor. Practical Neurology, 13(4), 249-53. https://doi.org/10.1136/practneurol-2012-000438
Lote H, Fuller GN, Bain PG. 48, XXYY Syndrome Associated Tremor. Pract Neurol. 2013;13(4):249-53. PubMed PMID: 23487807.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - 48, XXYY syndrome associated tremor. AU - Lote,Hazel, AU - Fuller,Geraint N, AU - Bain,Peter G, Y1 - 2013/03/13/ PY - 2013/3/15/entrez PY - 2013/3/15/pubmed PY - 2014/2/11/medline KW - ATTENTION KW - TREMOR SP - 249 EP - 53 JF - Practical neurology JO - Pract Neurol VL - 13 IS - 4 N2 - 48, XXYY syndrome is a form of sex chromosome aneuploidy that affects between 1 in 18 000 to 1 in 40 000 males. It is not inherited and is diagnosed by karyotyping. It has similarities to 47, XXY Klinefelter's syndrome, with tall stature, micro-orchidism, hypergonadotropic hypogonadism and infertility in males. However, patients with 48, XXYY syndrome also commonly have dental problems, tremor, attention deficit disorder, learning difficulties, allergies and asthma. The tremor is typically reported as an intention tremor (in 71% of patients XXYY aged >20 years with 48), which becomes more common with age and worsens over time. SN - 1474-7766 UR - https://www.unboundmedicine.com/medline/citation/23487807/48_XXYY_syndrome_associated_tremor_ L2 - https://pn.bmj.com/lookup/pmidlookup?view=long&pmid=23487807 DB - PRIME DP - Unbound Medicine ER -