符合真正常染色体显性遗传的家族性原发性自发性气胸。
Familial primary spontaneous pneumothorax consistent with true autosomal dominant inheritance.
作者信息
Morrison P J, Lowry R C, Nevin N C
机构信息
Department of Medical Genetics, Belfast City Hospital Trust, UK.
出版信息
Thorax. 1998 Feb;53(2):151-2. doi: 10.1136/thx.53.2.151.
Abstract
A family exhibiting spontaneous pneumothorax in a father and three offspring (two sons, and one daughter) is described. The mode of inheritance is apparently autosomal dominant with two episodes of male to male transmission in one family. The age of onset varied by up to 13 years within the family. Isolated autosomal dominant pneumothorax appears to be a distinct clinical entity.
摘要
本文描述了一个家庭，父亲和三个子女（两个儿子和一个女儿）均出现自发性气胸。遗传模式显然为常染色体显性遗传，在一个家庭中有两例男性之间的遗传传递。该家庭中发病年龄相差达13岁。孤立性常染色体显性遗传性气胸似乎是一种独特的临床病症。
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