Rott H D, Koniszewski G
J Genet Hum. 1987 Jan;35(1):19-27.
In females random X-inactivation and subsequent embryonic development cause a specific distribution of cell clones. This aspect can be seen in carrier women for different X-linked diseases. In such dermopathies the carrier women show striated skin affections following a system of lines, which has been described by A. Blaschko in 1901. An analogous pattern can be seen in the retina of carrier women for the X-linked ocular albinism. The fundus shows a partial involvement with a striated pattern diverging from the papilla. In X-linked cataracts carrier women have lens opacities with an irregularly radiated pattern as well as segmental cataracts. This finding is demonstrated in the isolated X-linked cataract, the X-linked chondrodysplasia punctata, and in Lowe's syndrome.
在女性中,随机的X染色体失活及随后的胚胎发育会导致细胞克隆的特定分布。这一现象在患有不同X连锁疾病的女性携带者中可见。在这类皮肤病中,女性携带者的皮肤呈现出条纹状病变,遵循一种由A. 布拉施科于1901年描述的线条系统。在X连锁性眼白化病女性携带者的视网膜中也能看到类似的模式。眼底显示部分受累,呈现出从视乳头发散出的条纹状图案。在X连锁白内障中,女性携带者的晶状体混浊呈现不规则放射状图案以及节段性白内障。这一发现已在孤立性X连锁白内障、X连锁点状软骨发育不良和洛氏综合征中得到证实。