Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.
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.
性染色体异常（SCAs）的特征是整条性染色体或性染色体部分的获得或缺失，最著名的综合征有特纳综合征、克氏综合征、XXX 三体综合征和 XYY 三体综合征。自这些综合征首次被描述以来已经超过 60 年，有几篇论文报道了患病者的疾病和健康相关问题、神经认知缺陷和社会挑战。然而，直到过去几十年，随着对综合征内和综合征间特定合并症模式以及患病者的早逝的进一步研究，人们才认识到普遍增加的合并症负担。此外，这些流行病学研究还提供了有关 SCAs 与教育、收入、退休、与伴侣同居和生育等方面的社会经济地位负相关的知识。本综述主要关注特纳综合征、克氏综合征、XXX 三体综合征和 XYY 三体综合征的流行病学方面。
