同一家族中的遗传性血管性水肿和夏科-马里-图思病。
Hereditary angioneurotic edema and Charcot-Marie-Tooth disease in the same family.
作者信息
Fernandez P G, Day J H, Simpson N E, Zachariah P K
出版信息
Can Med Assoc J. 1978 Sep 9;119(5):455-8.
Abstract
In one family two genetic diseases were transmitted as autosomal dominant traits; hereditary angioneurotic edema was inherited from the paternal side and Charcot-Marie Tooth disease from the maternal side of the family. The conditions occurred separately in 8 and 11 members respectively and together (an exceedingly rare occurrence) in 3. Of six siblings, two girls and four boys, all had Charcot-Marie-Tooth disease, and three, the two girls and one of the boys, also had hereditary angioneurotic edema.
摘要
在一个家族中，两种遗传病以常染色体显性特征遗传；遗传性血管神经性水肿来自家族父系，而夏科-马里-图斯病来自家族母系。这两种病症分别出现在8名和11名家族成员中，同时出现（极为罕见）的有3人。在六个兄弟姐妹中，两个女孩和四个男孩都患有夏科-马里-图斯病，其中三个，即两个女孩和一个男孩，还患有遗传性血管神经性水肿。
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