先天性遗传性疾病108例分析

Clinical analysis of congenital inherited diseases:108 cases report

108例均为1994年一年内来我院遗传门诊就诊者，包括遗传病咨询者。其中出生即为死胎者14例，余94例患者接受专科检查。病例分类如下：染色体病28例，常隐47例，常显3例，X连锁隐性7例，多基因遗传病23例。本文复述了遗传概念、传递方式及其特点，有助于我们向患者提供充分的遗传学咨询，达到优生优育的目的。

We analysed 108 cases of inherited diseases at the genetic clinic of our hospital in 1994. Results were shown as follows: amone 108 cases chromosomal diseases accounted for 28; autosomal recessive inheritance 47; autosomal dominant 3; X-linked recessive 7; polygenic 23. In this article we reviewed some concepts of genetics, manners and characteristics of inheritance. This will be helpful for us to provide practical genetic consultation for parents and achieve eugeric aim.