Primrose D A
J Ment Defic Res. 1975 Sep-Dec;19(3-4):195-203. doi: 10.1111/j.1365-2788.1975.tb01272.x.
A family is reported in which the sixth and seventh children, who are twins, have epiloia. No other member of the family has any of the accepted stigma of this condition. It is shown that the twins are dizygotic and so are likely to have inherited their epiloia. Biochemical studies suggest that the father has epiloia and, in view of this, pigmented skin lesions assume diagnosis importance. The significance of this is discussed both in relation to diagnosis in general and to genetic counselling in this family where one of the other children might be affected.
据报道,有一个家庭,其第六个和第七个孩子是双胞胎,患有结节性硬化症。该家庭的其他成员均无这种疾病公认的特征。研究表明,这对双胞胎是异卵双胞胎,因此很可能是遗传了结节性硬化症。生化研究表明父亲患有结节性硬化症,鉴于此,皮肤色素沉着病变具有诊断意义。本文将讨论这一情况在一般诊断方面的意义,以及在这个家庭中对可能受影响的其他孩子之一进行遗传咨询的意义。