一家三例视网膜母细胞瘤患者的细胞遗传学研究

• 作 者: 方嬿 卓子兰
• 机 构: 中山医科大学肿瘤研究所,中山医科大学肿瘤研究所
• 出 处: 癌症
• 发表日期: 1986年01期
• 关键词: 视网膜母细胞瘤 细胞遗传学研究 异常染色体核型 断裂热点 染色体长臂 左眼球 异常核型 染色体异常 染色体检查 核型分析

本文检查了一家庭内两代三例同患视网膜母细胞瘤患者的外周血淋巴细胞染色体;发现三例患者均有相似的异常核型;46,XX,/46,xx,13q~-(或46,xy,/46,xy,13q~-)。在异常染色体核型中均发现一条13号染色体长臂部分缺失;缺失片断大小虽不同,但断裂点可见在13q~(14·1)处。有人认为在遗传性肿瘤患者的某一特定染色体上存在“断裂热点”,13q~(14)带为体质体视网膜母细胞瘤缺失的断裂点。 本文报道的子代在幼儿期发病,而亲代在成年期发病,这种情况尚属少见。

This paper examined the chromosomes of peripheral blood lymphocytes in three generations of two patients with retinoblastoma in a family; all three patients had similar abnormal karyotypes; 46, XX, / 46, xx, 13q ~ - (or 46, xy, / 46, xy, 13q ~ -). A deletion of a long arm of chromosome 13 was found in abnormal chromosome karyotypes. Although the size of the missing fragments was different, the breaking point was found at 13q ~ (14.1). Some people think that there is a “hot spot of break” in a specific chromosome of hereditary cancer patients, and the 13q ~ (14) band is the break point of the absence of body-body retinoblastoma. The offspring reported in this paper have morbidity in early childhood and the parental morbidity in adulthood is rare.