Nichols W W, Miller R C, Sobel M, Hoffman E, Sparkes R S, Mohandas T, Veomett I, Davis J R
Am J Ophthalmol. 1980 May;89(5):621-7. doi: 10.1016/0002-9394(80)90276-7.
In a patient with a 13qXp translocation and retinoblastoma the band associated with retinoblastoma (13q14) was clearly translocated intact to the X chromosome rather than being the breakpoint of the translocation. Genetic inactivation of the derivative X chromosome shown by late labeling and cell hybridization techniques in the predominance of cells indicated a functional monosomy for this segment as the most likely predisposing factor in producing retinoblastoma.
在一名患有13qXp易位和视网膜母细胞瘤的患者中,与视网膜母细胞瘤相关的带(13q14)明显完整地易位到了X染色体上,而不是易位的断点。通过后期标记和细胞杂交技术在大多数细胞中显示的衍生X染色体的基因失活表明,该片段的功能性单体性是产生视网膜母细胞瘤最可能的易感因素。