Hecht F, Hecht B K, Austin W J
Clin Genet. 1982 May;21(5):293-6. doi: 10.1111/j.1399-0004.1982.tb01374.x.
Incontinentia pigmenti (IP) is an X-linked dominant disease, usually lethal to males. To explain occasional sporadic IP males, the half chromatid mutation model (Gartler & Francke 1975) has been invoked (Lenz 1975). We here report four cases of American Indians with IP. Two girls had sporadic IP. One affected boy's mother had IP. This is the first report of mother-to-son transmission of IP, indicating that a male with an inherited whole chromatid mutation for IP can escape lethality.
色素失禁症（IP）是一种X连锁显性疾病，通常对男性具有致死性。为了解释偶尔出现的散发性IP男性患者，人们提出了半染色单体突变模型（加特勒和弗兰克，1975年）（伦茨，1975年）。我们在此报告4例患有色素失禁症的美洲印第安人病例。两名女孩患有散发性色素失禁症。一名患病男孩的母亲患有色素失禁症。这是色素失禁症母传子的首例报告，表明患有遗传性色素失禁症全染色单体突变的男性可以逃避致死性。
