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Further magnetic resonance imaging (MRI) brain delineation of 49,XXXXY syndrome.

Abstract

A rare sex chromosome aneuploidy syndrome, 49,XXXXY syndrome is characterized by mental retardation with severe learning difficulties, craniofacial and skeletal abnormalities, hypogonadism, and congenital heart disease. The authors describe a 30-month-old boy with 49,XXXXY syndrome, global developmental delay and white matter changes in the brain magnetic resonance imaging. They reviewed the literature to delineate a specific magnetic resonance imaging pattern of 49,XXXXY syndrome.

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  • Publisher Full Text
  • Authors+Show Affiliations

    ,

    Division of Pediatric Neurology, Department of Pediatrics, Riyadh Military Hospital, Riyadh, Saudi Arabia. btabarki@hotmail.com

    , ,

    Source

    Journal of child neurology 27:5 2012 May pg 650-3

    MeSH

    Abnormalities, Multiple
    Brain
    Child, Preschool
    Chromosomes, Human, X
    Consanguinity
    Humans
    Male
    Sex Chromosome Aberrations

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    22156792

    Citation

    Tabarki, Brahim, et al. "Further Magnetic Resonance Imaging (MRI) Brain Delineation of 49,XXXXY Syndrome." Journal of Child Neurology, vol. 27, no. 5, 2012, pp. 650-3.
    Tabarki B, Shafi SA, Adwani NA, et al. Further magnetic resonance imaging (MRI) brain delineation of 49,XXXXY syndrome. J Child Neurol. 2012;27(5):650-3.
    Tabarki, B., Shafi, S. A., Adwani, N. A., & Shahwan, S. A. (2012). Further magnetic resonance imaging (MRI) brain delineation of 49,XXXXY syndrome. Journal of Child Neurology, 27(5), pp. 650-3. doi:10.1177/0883073811424797.
    Tabarki B, et al. Further Magnetic Resonance Imaging (MRI) Brain Delineation of 49,XXXXY Syndrome. J Child Neurol. 2012;27(5):650-3. PubMed PMID: 22156792.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Further magnetic resonance imaging (MRI) brain delineation of 49,XXXXY syndrome. AU - Tabarki,Brahim, AU - Shafi,Shatha Al, AU - Adwani,Nawal Al, AU - Shahwan,Saad Al, Y1 - 2011/12/07/ PY - 2011/12/14/entrez PY - 2011/12/14/pubmed PY - 2012/9/5/medline SP - 650 EP - 3 JF - Journal of child neurology JO - J. Child Neurol. VL - 27 IS - 5 N2 - A rare sex chromosome aneuploidy syndrome, 49,XXXXY syndrome is characterized by mental retardation with severe learning difficulties, craniofacial and skeletal abnormalities, hypogonadism, and congenital heart disease. The authors describe a 30-month-old boy with 49,XXXXY syndrome, global developmental delay and white matter changes in the brain magnetic resonance imaging. They reviewed the literature to delineate a specific magnetic resonance imaging pattern of 49,XXXXY syndrome. SN - 1708-8283 UR - https://www.unboundmedicine.com/medline/citation/22156792/Further_magnetic_resonance_imaging__MRI__brain_delineation_of_49XXXXY_syndrome_ L2 - http://journals.sagepub.com/doi/full/10.1177/0883073811424797?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -