【摘要】 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”,13q¹⁴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。更多还原

【Abstract】 The high-resolution prophase banding technique was used to analysisthe chromosome of peripheral lymphocytes of 3 retinoblastoma patients. The abnormal karyotype (46, xx/46, xx 13q- or 46, xy/46, xy, 13q-) can be found in all 3 cases. They had detectable cytogenetic abnormalities, all involving an interstitial deletion of 13q14 on the long arm of one of the chromosomes No. 13. Though the size of the deletion fragment was variable, the breakpoint was definite (13q14), The results suggest that the deletion (13q14) may be the specific breakpoint for the retinoblastoma.更多还原