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48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome.

Abstract

Sex chromosome tetrasomy and pentasomy conditions occur in 1:18,000-1:100,000 male births. While often compared with 47,XXY/Klinefelter syndrome because of shared features including tall stature and hypergonadotropic hypogonadism, 48,XXYY, 48,XXXY and 49,XXXXY syndromes are associated with additional physical findings, congenital malformations, medical problems and psychological features. While the spectrum of cognitive abilities extends much higher than originally described, developmental delays, cognitive impairments and behavioural disorders are common and require strong treatment plans. Future research should focus on genotype-phenotype relationships and the development of evidence-based treatments.

CONCLUSION

The more complex physical, medical and psychological phenotypes of 48,XXYY, 48,XXXY and 49,XXXXY syndromes make distinction from 47,XXY important; however, all of these conditions share features of hypergonadotropic hypogonadism and the need for increased awareness, biomedical research and the development of evidence-based treatments.

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  • Authors+Show Affiliations

    ,

    Section of Neurodevelopmental Behavioral Pediatrics, Department of Pediatrics, University of Colorado School of Medicine, Aurora, USA. Tartaglia.nicole@tchden.org

    , , ,

    Source

    MeSH

    Humans
    Hypogonadism
    Klinefelter Syndrome
    Male
    Phenotype
    Sex Chromosome Disorders
    Syndrome

    Pub Type(s)

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

    Language

    eng

    PubMed ID

    21342258

    Citation

    Tartaglia, Nicole, et al. "48,XXYY, 48,XXXY and 49,XXXXY Syndromes: Not Just Variants of Klinefelter Syndrome." Acta Paediatrica (Oslo, Norway : 1992), vol. 100, no. 6, 2011, pp. 851-60.
    Tartaglia N, Ayari N, Howell S, et al. 48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome. Acta Paediatr. 2011;100(6):851-60.
    Tartaglia, N., Ayari, N., Howell, S., D'Epagnier, C., & Zeitler, P. (2011). 48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome. Acta Paediatrica (Oslo, Norway : 1992), 100(6), pp. 851-60. doi:10.1111/j.1651-2227.2011.02235.x.
    Tartaglia N, et al. 48,XXYY, 48,XXXY and 49,XXXXY Syndromes: Not Just Variants of Klinefelter Syndrome. Acta Paediatr. 2011;100(6):851-60. PubMed PMID: 21342258.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - 48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome. AU - Tartaglia,Nicole, AU - Ayari,Natalie, AU - Howell,Susan, AU - D'Epagnier,Cheryl, AU - Zeitler,Philip, Y1 - 2011/04/08/ PY - 2011/2/24/entrez PY - 2011/2/24/pubmed PY - 2011/8/10/medline SP - 851 EP - 60 JF - Acta paediatrica (Oslo, Norway : 1992) JO - Acta Paediatr. VL - 100 IS - 6 N2 - UNLABELLED: Sex chromosome tetrasomy and pentasomy conditions occur in 1:18,000-1:100,000 male births. While often compared with 47,XXY/Klinefelter syndrome because of shared features including tall stature and hypergonadotropic hypogonadism, 48,XXYY, 48,XXXY and 49,XXXXY syndromes are associated with additional physical findings, congenital malformations, medical problems and psychological features. While the spectrum of cognitive abilities extends much higher than originally described, developmental delays, cognitive impairments and behavioural disorders are common and require strong treatment plans. Future research should focus on genotype-phenotype relationships and the development of evidence-based treatments. CONCLUSION: The more complex physical, medical and psychological phenotypes of 48,XXYY, 48,XXXY and 49,XXXXY syndromes make distinction from 47,XXY important; however, all of these conditions share features of hypergonadotropic hypogonadism and the need for increased awareness, biomedical research and the development of evidence-based treatments. SN - 1651-2227 UR - https://www.unboundmedicine.com/medline/citation/21342258/48XXYY_48XXXY_and_49XXXXY_syndromes:_not_just_variants_of_Klinefelter_syndrome_ L2 - https://doi.org/10.1111/j.1651-2227.2011.02235.x DB - PRIME DP - Unbound Medicine ER -