Telfer M A, Cowell H R
Orthop Clin North Am. 1981 Jan;12(1):23-36.
Mental retardation is a condition with multiple, disparate causes, both environmental and genetic. In this article we have tried to characterize, in a general fashion, the nature of the genetic factors through a discussion of polygenic inheritance, single gene errors, and chromosomal anomalies. Despite the existence of a large and complex body of knowledge, which has only been touched upon here, it is sobering to realize that we cannot diagnose almost half of the mentally retarded. Even in those in whom a genetic etiology is obvious, we know little about the intervening processes that operate between the gene and the mental deficiency it produces. Under the conditions, therapy holds little promise, while prevention assumes a high priority. Prevention of mental retardation due to genetic factors requires the physician to have a basis knowledge of genetic principles and syndromes, of prenatal diagnostic technology, and a determination to inform, even when the patient does not ask.
智力迟钝是一种由多种不同原因引起的病症,这些原因既有环境因素,也有遗传因素。在本文中,我们试图通过讨论多基因遗传、单基因缺陷和染色体异常,以一种概括的方式描述遗传因素的本质。尽管存在大量复杂的知识体系(本文仅触及皮毛),但令人清醒的是,我们几乎无法诊断出近一半的智力迟钝病例。即使在那些遗传病因明显的患者中,我们对基因与它所导致的智力缺陷之间起作用的中间过程也知之甚少。在这种情况下,治疗前景渺茫,而预防则成为重中之重。预防由遗传因素导致的智力迟钝要求医生具备遗传原理和综合征的基础知识、产前诊断技术,并且即使患者不询问,也要有告知的决心。