A2型短指畸形：一个新家族的报告。
Type A2 brachydactily: report of a new family.
作者信息
Rasore-Quartino A, Camera G
出版信息
Acta Genet Med Gemellol (Roma). 1977;26(2):141-50. doi: 10.1017/s0001566000009934.
PMID:596111
Abstract
A new family with the A2 type brachydactily is described. It is the first one observed in Italy and the sixth of the world literature. Brachymesophalangy of index fingers and/or second toes is the typical osseous malformation which was present in 14 individuals from 4 generations. The defect is transmitted by an autosomal dominant gene with high penetrance and variable expressivity.
摘要
本文描述了一个患有A2型短指症的新家族。这是在意大利观察到的首例，也是世界文献记载中的第六例。食指和/或第二脚趾的中节指（趾）骨短小是典型的骨骼畸形，该家族四代中的14人患有此症状。这种缺陷由一个具有高外显率和可变表达性的常染色体显性基因传递。
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