Mevorah B, Frenk E, Pescia G
Clin Genet. 1978 Jun;13(6):462-70. doi: 10.1111/j.1399-0004.1978.tb01199.x.
A family in which the mother and six of her sons present an ichthyosis of the vulgaris type has been analysed clinically, histologically and electron microscopically. Phenotypically the ichthyosis in the mother is purely of the dominant type, while that in all the affected sons shows, to varying degrees, features of both the dominant and X-linked recessive variants. The findings are interpreted as reasonably good evidence that the mother has transmitted to all her affected sons both the autosomal dominant and the X-linked recessive genes for ichthyosis. Although genetically this is a most unusual situation, it corresponds best to our findings.
对一个家庭进行了临床、组织学和电子显微镜分析，该家庭中母亲和她的六个儿子患有寻常型鱼鳞病。从表型上看，母亲的鱼鳞病完全是显性类型，而所有患病儿子的鱼鳞病在不同程度上表现出显性和X连锁隐性变异的特征。这些发现被解释为相当有力的证据，表明母亲已将鱼鳞病的常染色体显性基因和X连锁隐性基因都遗传给了她所有患病的儿子。虽然从遗传学角度来看这是一种非常不寻常的情况，但这与我们的发现最为相符。
