本文报告一例单眼散发性视网膜母细胞瘤女性患者。其外周血淋巴细胞染色体分析示:所有细胞均有5号与13号染色体易位伴13号染色体长臂中间缺失,核型为(简式):46,XX,t(5;13)(p15.3 q21.1)del(13)(q14.1 q21.1)或(繁式):46,XX,t(5;13)(5qter→cen→5p15.3∷13q21.1→13qter)(13pter→cen→13q14.1∷5 p15.3→5 pter)del(13)(13q 14.1→q21.1)。该患者除Rb外,智力严重低下,身材矮及有13q缺失的特殊面容:眉弓突出、低而宽鼻梁、球形鼻尖、大嘴、上唇薄、人中长和牙齿交错不齐。 This article reports a case of monocular sporadic retinoblastoma female patients. Chromosomal analysis of peripheral blood lymphocytes showed that all cells had chromosome 5 and 13 translocations accompanied by the deletion of the long arm of chromosome 13 and karyotypes were: 46, XX, t (5; 13) (p15 .3 q21.1) del (13) (q14.1 q21.1) or (simple): 46, XX, t (5; 13) (5qter → cen → 5p15.3 :: 13q21.1 → 13qter) 13pter → cen → 13q14.1 :: 5 p15.3 → 5 pter) del (13) (13q 14.1 → q21.1). In addition to Rb, this patient had a low intelligence, a short stature, and a 13q-specific face: a prominent eyebrow, a low and wide nose, a pointed nose, a big mouth, a thin upper lip, a long middle and a staggered teeth.