视网膜母细胞瘤(RB)是一种少见的幼儿视网膜瘤(占出生1/2万),40%的RB患者具有遗传基础,并以多发性肿瘤生长病灶为特征,通常累及双眼。少数RB患者(5%)涉及到细胞遗传学上明显的13号染色体缺失。1962年及1963年有人首次报导了与RB有关的D组染色体缺失。本文中,我们报道了一例带有(X;13)结构易位的RB患者有关细胞及分子遗传学研究结果。患者经35周正常妊娠正常分娩,该女婴 Retinoblastoma (RB) is a rare juvenile retinoblastoma (accounting for 1 in 2 births) and 40% of RB patients have a genetic basis and are characterized by multiple tumor growth lesions, often involving both eyes. A small number of RB patients (5%) are involved in cytogenetically significant chromosome 13 deletion. For the first time in 1962 and 1963, there was a report of chromosomal deletion in group D associated with RB. In this paper, we report on the results of a cell and molecular genetics study in a patient with RB with (X; 13) translocation. The patient gave birth normally after 35 weeks of normal pregnancy, the baby girl