Yunis J J, Ramsay N
Am J Dis Child. 1978 Feb;132(2):161-3. doi: 10.1001/archpedi.1978.02120270059012.
Two patients with retinoblastoma and an interstitial deletion of the long arm of chromosome 13 were studied using G-banded metaphase and prophase chromosomes. One patient showed several congenital defects, developmental retardation, and deletion of bands q14 and q21. The second patient showed mild developmental delay, a few minor congenital defects, and a loss of approximately half of band q14. On the basis of this study and nine others from the literature, it is now possible to tentatively assign a predisposition to retinoblastoma to deletion of a specific small region of chromosome 13.
对两名患有视网膜母细胞瘤且13号染色体长臂存在间质性缺失的患者，使用G显带中期和前期染色体进行了研究。一名患者表现出多种先天性缺陷、发育迟缓，以及14q和21q带的缺失。第二名患者表现出轻度发育迟缓、一些轻微的先天性缺陷，以及大约一半的14q带缺失。基于本研究以及文献中的其他九项研究，现在有可能初步将视网膜母细胞瘤的易感性归因于13号染色体特定小区域的缺失。
