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49,XXXXY: a distinct phenotype. Three new cases and review.

Abstract

Over 100 cases of 49,XXXXY syndrome have been published to date. Classic findings include radioulnar synostosis, hypogonadism, and mental retardation. The majority of reported cases have not distinguished the 49,XXXXY syndrome from Klinefelter syndrome (47,XXY), and these patients are frequently labelled as having Klinefelter syndrome or as being a "Klinefelter variant." Because of distinct clinical features, we delineate the 49,XXXXY syndrome as separate from Klinefelter syndrome, and emphasise the prevalence of congenital heart defects. We also report three new cases of 49,XXXXY syndrome and briefly discuss patient management.

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  • Authors+Show Affiliations

    ,

    Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis 46202-5251, USA.

    ,

    Source

    Journal of medical genetics 35:5 1998 May pg 420-4

    MeSH

    Abnormalities, Multiple
    Adolescent
    Child, Preschool
    Humans
    Intellectual Disability
    Karyotyping
    Klinefelter Syndrome
    Male
    Phenotype
    Sex Chromosome Aberrations

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    9610808

    Citation

    Peet, J, et al. "49,XXXXY: a Distinct Phenotype. Three New Cases and Review." Journal of Medical Genetics, vol. 35, no. 5, 1998, pp. 420-4.
    Peet J, Weaver DD, Vance GH. 49,XXXXY: a distinct phenotype. Three new cases and review. J Med Genet. 1998;35(5):420-4.
    Peet, J., Weaver, D. D., & Vance, G. H. (1998). 49,XXXXY: a distinct phenotype. Three new cases and review. Journal of Medical Genetics, 35(5), pp. 420-4.
    Peet J, Weaver DD, Vance GH. 49,XXXXY: a Distinct Phenotype. Three New Cases and Review. J Med Genet. 1998;35(5):420-4. PubMed PMID: 9610808.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - 49,XXXXY: a distinct phenotype. Three new cases and review. AU - Peet,J, AU - Weaver,D D, AU - Vance,G H, PY - 1998/6/4/pubmed PY - 1998/6/4/medline PY - 1998/6/4/entrez SP - 420 EP - 4 JF - Journal of medical genetics JO - J. Med. Genet. VL - 35 IS - 5 N2 - Over 100 cases of 49,XXXXY syndrome have been published to date. Classic findings include radioulnar synostosis, hypogonadism, and mental retardation. The majority of reported cases have not distinguished the 49,XXXXY syndrome from Klinefelter syndrome (47,XXY), and these patients are frequently labelled as having Klinefelter syndrome or as being a "Klinefelter variant." Because of distinct clinical features, we delineate the 49,XXXXY syndrome as separate from Klinefelter syndrome, and emphasise the prevalence of congenital heart defects. We also report three new cases of 49,XXXXY syndrome and briefly discuss patient management. SN - 0022-2593 UR - https://www.unboundmedicine.com/medline/citation/9610808/49XXXXY:_a_distinct_phenotype__Three_new_cases_and_review_ L2 - http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=9610808 DB - PRIME DP - Unbound Medicine ER -