The author discusses the basic principles of genetics, including the classification of genetic disorders and a consideration of the rules and mechanisms of inheritance. The most common pitfalls in clinical genetic diagnosis are described, with emphasis on the problem of the negative or misleading family history.
作者讨论了遗传学的基本原理,包括遗传疾病的分类以及对遗传规律和机制的思考。文中描述了临床基因诊断中最常见的陷阱,重点强调了阴性或误导性家族史的问题。