A heterozygot expression of a 'recessive' gene?
An individual affected with severe bone reductions of the upper limbs, apparently due to an autosomal recessive gene, had eight normal children and then a child with absence of the right thumb and the correspondent metacarpal. This is supposed to be the result of a mild expression of the postulated gene in heterozygous state.
D001132:Arm / Q000002:abnormalities*; D005808:Genes, Recessive; D006579:Heterozygote; D006801:Humans; D008297:Male; D008663:Metacarpus / Q000002:abnormalities*