临床遗传学家的主要任务,是确定疾病的遗传方式。对于想知道他们的疾病传给后代的机率的人来说,遗传学咨询的作用是非常重要的。近几年这方面已经有了很大的进展,现在只对很少的疾病不能作出准确的回答。典型例子是苯丙酮尿症,其遗传方式、生化异常直至处理方法,已在若干年前被阐 The main task of clinical geneticists is to determine the genetic mode of disease. The role of genetic counseling is very important to those who want to know the chances that their illness will be passed on to future generations. Much progress has been made in this area in recent years, and we can not accurately answer the very few diseases now. A typical example is phenylketonuria, its hereditary pattern, biochemical abnormalities until treatment, has been elucidated several years ago