EPIDEMIOLOGY OF HUMAN CHROMOSOME ABNORMALITIES

这项建议是为了对一本关于人类传染病的书提供适度的支持。 染色体疾病 我们的目标是从一个 已出版和未出版的各种来源的数量 频率、已知和可疑病因、传播、 可疑的关联，预防和这些众多条件的影响， 以及对他们流行病学的历史理解的演变。的 它将是有用的，希望，在i）确保更多，准确， 关于染色体疾病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，ii） 通过提供随时访问摘要来帮助现场工作人员， 论文综述（其中大部分目前分散在各种杂志上 文章、会议报告、博士论文和研讨会论文集） 从而作为一个“指南”的文献，三）使工人获得一个 对该领域知识的历史演变的认识，iv） 鼓励个人开始解决 他们以前不知道的领域，v）帮助该领域的工作人员 把自己的工作放在别人以前工作的背景下，vi） 最终通过上述目标来减轻这些负担 我们物种的异常这本书将考虑所有人类 “体质性”染色体疾病，即，那些存在于受精卵中的， 在胚胎发育早期出现。这些对发病率有重大影响， 死亡率，据估计， 胚胎和胎儿死亡，约5%至7%的婴儿和早期死亡， 儿童和约20%的公认的精神发育迟滞。

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 The goal is to pull together and synthesize from a number of diverse sources both published and unpublished all the available data on the frequency, known and suspect etiologic factors, transmission, suspect associations, prevention, and impact of these numerous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.