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The epidemiology of sex chromosome abnormalities.
American Journal of Medical Genetics Seminars in Medical Genetics, Part C ( IF 2.8 ) Pub Date : 2020-06-07 , DOI: 10.1002/ajmg.c.31805
Agnethe Berglund 1, 2, 3 , Kirstine Stochholm 3 , Claus Højbjerg Gravholt 2, 3
Affiliation  

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.

中文翻译:

性染色体异常的流行病学。

性染色体异常(SCA)的特征是整个性染色体或性染色体的某些部分得失,其中最著名的综合征是特纳综合征,克林费尔特综合征,47,XXX综合征和47,XYY综合征。自从60多年前首次描述这些综合症以来,已有几篇论文报道了与疾病和健康相关的问题,神经认知缺陷和受影响人群的社会挑战。但是,直到最近几十年进行了基于人群的流行病学研究后,才认识到普遍增加的合并症负担,以及各种综合症内和跨特定的合并症模式以及受影响者的早逝。此外,这些流行病学研究提供了关于SCA之间的联系以及在教育,收入,退休,与伴侣同居和父母身份方面社会经济地位下降的认识。这篇评论是关于Turner,Klinefelter,47,XXX和47,XYY综合征的流行病学方面的。
更新日期:2020-06-26
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