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一个西西里家族中的常染色体隐性A型轴后多指(趾)畸形

Autosomal recessive postaxial polydactyly type A in a Sicilian family.

作者信息

Mollica F, Volti S L, Sorge G

出版信息

J Med Genet. 1978 Jun;15(3):212-6. doi: 10.1136/jmg.15.3.212.

Abstract

Postaxial polydactyly type A was present in several members of a Sicilian family. The anomaly was probably transmitted as an autosomal recessive character. Two polydactylous subjects were also beta-thalassaemia carriers, but a linkage between the two mutant genes could be excluded. Two patients with hexadactyly had a fifth digital triradius.

摘要

西西里岛一个家族的多名成员患有A型轴后多指畸形。这种异常可能作为常染色体隐性性状遗传。两名多指患者也是β地中海贫血携带者,但可以排除这两个突变基因之间的连锁关系。两名患有六指畸形的患者有第五指三叉点。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/51f9/1013679/29389c3f5bfa/jmedgene00298-0049-a.jpg

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