The epidemiology of sex chromosome abnormalities

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The epidemiology of sex chromosome abnormalities. / Berglund, Agnethe ; Stochholm, Kirstine ; Gravholt, Claus Højbjerg.

In: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, Vol. 184, No. 2, 06.2020, p. 202-215.

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Review › Research › peer-review

Author

Berglund, Agnethe ; Stochholm, Kirstine ; Gravholt, Claus Højbjerg. / The epidemiology of sex chromosome abnormalities. In: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics. 2020 ; Vol. 184, No. 2. pp. 202-215.

Bibtex

@article{1ede9dc6dbca4167bc28abedbf170588,

title = "The epidemiology of sex chromosome abnormalities",

abstract = "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, 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",

author = "Agnethe Berglund and Kirstine Stochholm and Gravholt, {Claus H{\o}jbjerg}",

note = "{\textcopyright} 2020 Wiley Periodicals LLC.",

year = "2020",

month = jun,

doi = "10.1002/ajmg.c.31805",

language = "English",

volume = "184",

pages = "202--215",

journal = "American Journal of Medical Genetics. Part C: Seminars in Medical Genetics",

issn = "1552-4868",

publisher = "JohnWiley & Sons, Inc.",

number = "2",

}

RIS

TY - JOUR

T1 - The epidemiology of sex chromosome abnormalities

AU - Berglund, Agnethe

AU - Stochholm, Kirstine

AU - Gravholt, Claus Højbjerg

PY - 2020/6

Y1 - 2020/6

N2 - 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.

AB - 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.

KW - 47

KW - 47,XYY SYNDROME

KW - AFFECT MORTALITY

KW - CANCER INCIDENCE

KW - CYTOGENETIC SURVEY

KW - GREAT-BRITAIN

KW - KLINEFELTER-SYNDROME

KW - Klinefelter syndrome

KW - NEWBORN-INFANTS

KW - POSTNATAL PREVALENCE

KW - TURNER-SYNDROME

KW - Turner syndrome

KW - WOMEN

KW - XXX syndrome

KW - XYY syndrome

KW - epidemiology

U2 - 10.1002/ajmg.c.31805

DO - 10.1002/ajmg.c.31805

M3 - Review

C2 - 32506765

VL - 184

SP - 202

EP - 215

JO - American Journal of Medical Genetics. Part C: Seminars in Medical Genetics

JF - American Journal of Medical Genetics. Part C: Seminars in Medical Genetics

SN - 1552-4868

IS - 2

ER -