Serra A, Neri G
Istituto di Genetica Umana, Facoltà di Medicina A. Gemelli, Università Cattolica del S. Cuore, Roma, Italy.
Am J Med Genet Suppl. 1990;7:11-9. doi: 10.1002/ajmg.1320370704.
The most relevant data and stimulating ideas presented and discussed at the symposium are briefly summarized. They centered around four major foci: the genotype, the phenotype, the pathogenesis of Down syndrome (DS), and the Down person. The molecular genetic approaches to the isolation of genes encoded by chromosome 21, the definition of a possible "critical region," and the acquisition of further insights on the origin of trisomy 21 were the main topics of the analysis of the genotype. The study of the phenotype concentrated essentially on three complex traits related to the nervous, immune, and hematologic systems, which show great sensitivity to developmental disturbances, with major effects on DS subjects' health and behavior. The difficulties of investigating the pathogenesis of the syndrome were outlined, but the theoretical bases for devising sound and complete experimental approaches were also delineated. Finally, the special attention that in the last decade the medical and sociopsychological sciences gave to Down persons was also underlined, and future developments indicated. DS still remains a challenge to science and medicine; however, from the symposium emerged a less pessimistic view on actual potentialities for a decisive advancement in its basic knowledge.
本文简要总结了在研讨会上展示和讨论的最相关数据及启发性观点。它们围绕四个主要焦点展开：基因型、表型、唐氏综合征（DS）的发病机制以及唐氏患者。对21号染色体编码基因的分离、可能的“关键区域”的定义以及对21三体起源的进一步深入了解的分子遗传学方法，是基因型分析的主要主题。表型研究主要集中在与神经、免疫和血液系统相关的三个复杂性状上，这些性状对发育干扰表现出高度敏感性，对DS患者的健康和行为有重大影响。文中概述了研究该综合征发病机制的困难，但也阐述了设计合理且完整的实验方法的理论基础。最后，强调了过去十年医学和社会心理科学对唐氏患者给予的特别关注，并指出了未来的发展方向。DS仍然是科学和医学面临的一项挑战；然而，从研讨会上可以看出，对于在其基础知识方面取得决定性进展的实际潜力，人们的看法不再那么悲观。
