Cannizzaro L A, Hecht F
Clin Genet. 1987 Jul;32(1):66-9. doi: 10.1111/j.1399-0004.1987.tb03326.x.
Incontinentia pigmenti (IP) is a genetic disease that is usually lethal in males. We report finding an X;10 translocation in a girl with IP. Three other X/autosome translocations have been observed in females with IP: two involving chromosome 9 and one involving chromosome 17. The breakpoint in all four cases in the X chromosome was in band Xp11. The IP gene locus can therefore be confidently assigned to the X chromosome and, specifically, to band Xp11. The IP gene is most likely to subband Xp11.2. We propose that IP may prove to be a submicroscopic deletion.
色素失禁症(IP)是一种通常对男性致命的遗传性疾病。我们报告在一名患有色素失禁症的女孩中发现了X;10易位。在患有色素失禁症的女性中还观察到另外3种X/常染色体易位:2种涉及9号染色体,1种涉及17号染色体。所有4例X染色体的断裂点均位于Xp11带。因此,可以确定地将色素失禁症基因位点定位于X染色体,具体为Xp11带。色素失禁症基因很可能位于Xp11.2亚带。我们提出色素失禁症可能被证明是一种亚显微缺失。