Sex chromosome aneuploidies in 2020-The state of care and research in the world.
Sex chromosome aneuploidies in 2020-The state of care and research in the world.
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2020 年性染色体非整倍体 - 世界护理和研究状况。
DOI：
10.1002/ajmg.c.31808
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发表时间：
2020
期刊：
影响因子：
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通讯作者：
Disteche,Christine
中科院分区：
文献类型：
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作者：
Gravholt,ClausH;Tartaglia,Nicole;Disteche,Christine
This special issue considers various aspects of sex chromosome abnormalities (SCA’s) including Klinefelter syndrome (47, XXY), Triple-X syndrome (47, XXX), 47, XYY syndrome, and conditions with rarer X or Y types of aneuploidy. This issue follows a successful special issue on Turner syndrome entitled “Proceedings of the Turner syndrome network symposium” published last year in the American Journal of Medical Genetics Part C. A survey of the scientific literature demonstrates reveals a great deal of information on Klinefelter syndrome, but also a paucity of papers on conditions such as 47, XXX and 47, XYY syndromes, not to mention syndromes with multiple additional sex chromosomes such as 48, XXXY, 48, XXYY or 49, XXXXY. In addition to a lack of information on clinical aspects of these SCA conditions there is limited research about understanding the molecular mechanisms that link the presence of additional sex chromosomes to phenotypes. The goal of this new issue of the American Journal of Medical Genetics Part C is to discuss issues related to the diagnosis, phenotypic features, and clinical care of SCA patients and to provide a better understanding of the molecular basis of the disease processes.The lack of a comprehensive compilation of information regarding all aspects of life with a SCA condition hampers diagnosis and clinical care of patients. A few specialty clinics around the world care for people with SCA’s and thus have accumulated important knowledge concerning various aspects of life with an SCA, but a comprehensive review and integration of the literature informing evidence-based practice guidelines is lacking. This results in uncertainty about best care practices, disparities in care, and variable outcomes. Due in part to the lack of robust scientific research in SCA’s, the little literature available
