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视网膜母细胞瘤(Retinobla stoma 以下简称 RB)是婴幼儿最常见的眼内恶性肿瘤、占眼内肿瘤之首位约为90％,该病有3种类型:1、非遗传型;2、常染色体显性遗传;3、伴有13染色体长臂缺失(13q),拟统计遗传型占40％,亦有报道占60％。近年来染色体显带技术之进展,从细胞遗传学方面进一步证实该病与遗传的关系。1963年 Lele 等首先发现1例 RB 患者外周血淋巴细胞中一条 D 组染色体长臂有缺失,经
Retinoblastoma (RB) is the most common intraocular malignant tumor in infants and young children, accounting for about 90% of the first tumors in the eye. There are 3 types of this disease: 1) non-genetics; 2) autosomal Dominant inheritance; 3, with 13 long-arm chromosome deletion (13q), 40% of the estimated genetic type, also reported 60%. In recent years, the progress of chromosome banding technology has further confirmed the relationship between the disease and heredity in terms of cytogenetics. In 1963, Lele et al. First found that there was a deletion of a long arm of chromosome D in the peripheral blood lymphocytes of 1 patient with RB.