EPIDEMIOLOGY OF HUMAN CHROMOSOME ABNORMALITIES

这项提议是为了适度支持一本关于人类流行病学的书。 染色体紊乱。我们的目标是团结起来，从一个 已发布和未发布的不同来源的数量所有可用的 关于频率、已知和可疑病因、传播、 这些众多情况的可疑关联、预防和影响， 以及对其流行病学的历史认识的演变。这个 希望卷将在i)确保更多、准确和 关于染色体紊乱风险的持续遗传咨询， 从而有助于改善这一领域的保健服务，二) 通过提供随时可访问的摘要和 工作综述(目前大部分分散在不同的期刊上 文章、会议报告、博士论文和研讨会论文集) 从而充当文学的“向导”，三)使工人能够获得 欣赏该领域知识的历史演变，四) 激励个人开始致力于解决 他们以前没有意识到的领域，v)帮助现场工人 将自己的工作放在他人先前工作的背景下，vi) 最终通过上述目标来减轻这些负担 我们物种中的异常现象。这本书将考虑到所有人类 “结构性”染色体紊乱，即存在于受精卵或 在胚胎发育早期出现的。这些对发病率有重大影响， 在我们物种中造成的死亡，据估计约占所有 胚胎和胎儿死亡，约占#年婴儿和早期死亡的5%至7% 儿童时期和大约20%的公认精神发育迟滞。

This proposal is for modest support for a book on the epidemiology of human chromosome disorders. The goal is to pull together and synthesize from a number of diverse sources both published and unpublished all the available data on the frequency, known and suspect etiologic factors, transmission, suspect associations, prevention, and impact of these numerous conditions, as well as evolution of historical understanding of their epidemiology. The volume will be of use, it is hoped, in i) ensuring more, accurate and consistent genetic counseling with regard to risks of chromosome disorders, thus contributing to improvement of health care delivery in this area, ii) help workers in the field by providing ready access to summaries and syntheses of work (much of which at present is scattered in diverse journal articles, conference reports, doctoral theses, and symposium proceedings) thus acting as a "guide" to the literature, iii) enable workers to gain an appreciation of the historical evolution of knowledge in the field, iv) stimulate individuals to begin to work upon outstanding problems in the field of which they were not previously aware, v) help workers in the field put their own work in the context of previous work by others, vi) ultimately through the above goals to diminish the burden of these abnormalities in our species. The book will consider all human "constitutional" chromosome disorders, i.e., those present in the zygote or arising early in embryogenesis. These have major impact upon morbidity and mortality in our species, causing, it has been estimated about 30% of all embryonic and fetal deaths, about 5% to 7% of infant and early deaths in childhood and about 20% of recognized mental retardation.