Radhakrishna U, Multani A S, Solanki J V, Shah V C, Chinoy N J
Biotechnology, National Dairy Development Board, Anand, India.
J Med Genet. 1993 Apr;30(4):296-9. doi: 10.1136/jmg.30.4.296.
Preaxial polydactyly was observed in up to five generations of an Indian family living in a village in the Rajkot district (Gujarat). Among the 71 affected members, 45 were males and 26 were females. All these affected members showed preaxial polydactyly manifesting as a well formed, articulated extra digit of the hand or foot. Twenty other cases were also identified with polydactyly involving triphalangeal digits replacing the thumbs or duplication of the big toe(s). To the best of our knowledge, the present family is the largest in which several members have preaxial polydactyly of different types. No other abnormalities were apparent. The present study strongly suggests that preaxial polydactyly with a well formed extra digit, triphalangeal thumbs, and duplication of the big toe can be manifestations of the same autosomal dominant gene. It is likely that other factors are modifying the expression of this gene.
在居住于拉杰果德地区（古吉拉特邦）一个村庄的一个印度家庭中，观察到前轴多指畸形延续了多达五代。在71名受影响成员中，45名是男性，26名是女性。所有这些受影响成员均表现为前轴多指畸形，表现为手部或足部有一个发育良好、有关节的额外手指。另外还确定了20例多指畸形病例，包括三节指骨的手指替代拇指或大脚趾重复。据我们所知，目前这个家族是最大的一个家族，其中几名成员患有不同类型的前轴多指畸形。没有其他明显异常。本研究强烈表明，具有发育良好的额外手指、三节指骨拇指和大脚趾重复的前轴多指畸形可能是同一常染色体显性基因的表现。很可能其他因素正在改变该基因的表达。
