The epidemiology of sex chromosome abnormalities

Am J Med Genet C Semin Med Genet. 2020 Jun;184(2):202-215. doi: 10.1002/ajmg.c.31805. Epub 2020 Jun 7.


Sex chromosome abnormalities (SCAs) are characterized by gain or loss of entire sex chromosomes or parts of sex chromosomes with the best-known syndromes being Turner syndrome, Klinefelter syndrome, 47,XXX syndrome, and 47,XYY syndrome. Since these syndromes were first described more than 60 years ago, several papers have reported on diseases and health related problems, neurocognitive deficits, and social challenges among affected persons. However, the generally increased comorbidity burden with specific comorbidity patterns within and across syndromes as well as early death of affected persons was not recognized until the last couple of decades, where population-based epidemiological studies were undertaken. Moreover, these epidemiological studies provided knowledge of an association between SCAs and a negatively reduced socioeconomic status in terms of education, income, retirement, cohabitation with a partner and parenthood. This review is on the aspects of epidemiology in Turner, Klinefelter, 47,XXX and 47,XYY syndrome.

Keywords: 47,XXX syndrome; 47,XYY syndrome; Klinefelter syndrome; Turner syndrome; epidemiology.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Chromosomes, Human, X / genetics
  • Female
  • Humans
  • Karyotyping
  • Klinefelter Syndrome / epidemiology*
  • Klinefelter Syndrome / genetics
  • Klinefelter Syndrome / pathology
  • Male
  • Sex Chromosome Aberrations*
  • Sex Chromosome Disorders / genetics
  • Sex Chromosome Disorders / pathology
  • Sex Chromosomes / genetics*
  • Trisomy / genetics
  • Trisomy / pathology
  • Turner Syndrome / epidemiology*
  • Turner Syndrome / genetics
  • Turner Syndrome / pathology
  • XYY Karyotype / genetics
  • XYY Karyotype / pathology

Supplementary concepts

  • 47, XYY syndrome