Kurczynski T W, Berns J S, Johnson W E
J Med Genet. 1982 Dec;19(6):447-51. doi: 10.1136/jmg.19.6.447.
A family is described in which incontinentia pigmenti (IP) is variably expressed in both sexes, compatible with either autosomal dominant or X linked dominant inheritance. This is the first reported instance of an affected male with a positive family history. Immunological studies of the proband showed no significant alteration of immune function. Cytogenetic investigations of the proband and her affected brother and mother revealed no unusual propensity for chromosome breaks or gaps and no enhancement of sister chromatid exchanges.
本文描述了一个家族，其中色素失禁症（IP）在男女中均有不同程度的表现，符合常染色体显性遗传或X连锁显性遗传。这是首次报道有阳性家族史的患病男性病例。对先证者的免疫学研究表明其免疫功能无明显改变。对先证者及其患病的兄弟和母亲进行的细胞遗传学研究显示，染色体断裂或间隙无异常倾向，姐妹染色单体交换也未增强。
