Cross H E, Hansen R C, Morrow G, Davis J R
Am J Ophthalmol. 1977 Oct;84(4):548-54. doi: 10.1016/0002-9394(77)90450-0.
An infant girl with failure to thrive and bilateral retinoblastoma had a translocation of the long arm of chromosome 13 to the short arm of the X chromosome, and possible loss of a portion of the q 14 band. The lack of other major organ malformations in this patient emphasized the importance of considering chromosomal aberrations as a possible etiology of retinoblastoma in patients with nonspecific psychomotor retardation.
一名患有发育不良和双侧视网膜母细胞瘤的女婴,其13号染色体长臂易位至X染色体短臂,并且可能缺失了q14带的一部分。该患者不存在其他主要器官畸形,这凸显了对于患有非特异性精神运动发育迟缓的患者,将染色体畸变视为视网膜母细胞瘤可能病因的重要性。