The epidemiology of sex chromosome abnormalities

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DOI

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.

Original languageEnglish
JournalAmerican Journal of Medical Genetics. Part C: Seminars in Medical Genetics
Volume184
Issue2
Pages (from-to)202-215
Number of pages14
ISSN1552-4868
DOIs
Publication statusPublished - Jun 2020

    Research areas

  • 47, 47,XYY SYNDROME, AFFECT MORTALITY, CANCER INCIDENCE, CYTOGENETIC SURVEY, GREAT-BRITAIN, KLINEFELTER-SYNDROME, Klinefelter syndrome, NEWBORN-INFANTS, POSTNATAL PREVALENCE, TURNER-SYNDROME, Turner syndrome, WOMEN, XXX syndrome, XYY syndrome, epidemiology

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ID: 189907134