Keith C G, Webb G C
Arch Ophthalmol. 1985 Jul;103(7):941-4. doi: 10.1001/archopht.1985.01050070067032.
A young girl who had an active retinoblastoma in the left eye, and a retinoma or spontaneously regressed retinoblastoma in the right eye, was found to have a complex translocation-deletion involving chromosomes 13 and 10. Karyotypic analysis suggested that three simultaneous breaks had led to the interchange of centric and telomeric regions of chromosome 10 and 13, with loss of an interstitial acentric fragment from 13, which included subband 13q14.2. The child is intellectually retarded, and has the characteristic midface appearance associated with 13q-deletion syndrome. It is believed that this is the first report of a case of retinoblastoma and retinoma occurring in association with 13q-deletion syndrome.
一名左眼患有活跃性视网膜母细胞瘤、右眼患有视网膜瘤或自发消退性视网膜母细胞瘤的年轻女孩，被发现存在涉及13号和10号染色体的复杂易位-缺失。核型分析表明，三个同时发生的断裂导致了10号和13号染色体的着丝粒和端粒区域的互换，同时13号染色体上一个包括13q14.2亚带的中间无着丝粒片段丢失。该患儿智力发育迟缓，具有与13q缺失综合征相关的典型面部外观。据信，这是首例视网膜母细胞瘤和视网膜瘤与13q缺失综合征相关联的病例报告。
