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Genetic and Epigenetic Aspects of the Supernumerary X Chromosome

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Klinefelter’s Syndrome

Part of the book series: Trends in Andrology and Sexual Medicine ((TASM))

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Abstract

Klinefelter syndrome (KS) is one of the most common chromosomal disorders in male, affecting around 1:600 live male births. It is an aneuploidy affecting the sex chromosomes, and it is characterized by the presence of two or more extra copies of the X chromosome in a male subject. The supernumerary X chromosome comes from the mother and the father near equally, being the maternal, and possibly paternal, advanced age a well-known risk factor for KS. Despite the insights provided by numerous studies concerning the clinical consequences of KS performed so far, our knowledge of the molecular and cellular mechanisms underlying the KS pathogenesis is still limited in part due to the lack of in-depth mechanistic studies. Apart from the aneuploidy and that of the inter-individual genetic variation, several genetic mechanisms may play a role in modulating the phenotype variability observed in KS subjects. The present chapter will review the genetic and epigenetic aspects of the presence of the extra copy of the X chromosome in a male environment.

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Author information

Authors and Affiliations

  1. Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy

    Marco Bonomi, Giovanni Goggi & Biagio Cangiano

  2. Department of Endocrine and Metabolic Disease, IRCCS Istituto Auxologico Italiano, Milan, Italy

    Marco Bonomi, Giovanni Goggi & Biagio Cangiano

Authors
  1. Marco Bonomi
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  2. Giovanni Goggi
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  3. Biagio Cangiano
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Corresponding author

Correspondence to Marco Bonomi .

Editor information

Editors and Affiliations

  1. Unit of Andrology and Reproductive Medicine, University of Padua, Padua, Italy

    Andrea Garolla

  2. Endocrinology Unit, Ospedale Maggiore, Bologna, Italy

    Giovanni Corona

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Bonomi, M., Goggi, G., Cangiano, B. (2020). Genetic and Epigenetic Aspects of the Supernumerary X Chromosome. In: Garolla, A., Corona, G. (eds) Klinefelter’s Syndrome. Trends in Andrology and Sexual Medicine. Springer, Cham. https://doi.org/10.1007/978-3-030-51410-5_5

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  • DOI: https://doi.org/10.1007/978-3-030-51410-5_5

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-51409-9

  • Online ISBN: 978-3-030-51410-5

  • eBook Packages: MedicineMedicine (R0)

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