Bender P L
Division of Human Genetics, Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
AACN Clin Issues. 1998 Nov;9(4):483-90; quiz 615-7. doi: 10.1097/00044067-199811000-00003.
The purpose of this article is to familiarize nurses with why, how, when, and where a genetic family history assessment should be used in clinical practice. Pedigrees are diagrams that display the relationship among family members by using a combination of symbols and lines. They are used to record concisely a complete family history to identify the risk of transmitting inherited condition, to identify people at risk for development of adult-onset conditions, to aid in clinical diagnosis, and to serve as a reference for social and biologic relationships. A detailed explanation of the standardized pedigree nomenclature that was recommended by the Pedigree Standardization Task Force in 1995 is included. Step-by-step guidelines on taking a genetic family history and drawing pedigrees are provided. A case study is also included to illustrate pedigree construction.
本文旨在让护士熟悉在临床实践中使用遗传家族史评估的原因、方法、时间和地点。系谱图是通过符号和线条的组合来展示家庭成员之间关系的图表。它们用于简洁地记录完整的家族史，以识别遗传性疾病的传递风险，识别患成人发病疾病风险的人群，辅助临床诊断，并作为社会和生物学关系的参考。文中还包含了1995年系谱标准化工作组推荐的标准化系谱命名法的详细解释。提供了获取遗传家族史和绘制系谱图的分步指南。还包括一个案例研究以说明系谱构建。
