Wilson M G, Ebbin A J, Towner J W, Spencer W H
Clin Genet. 1977 Jul;12(1):1-8. doi: 10.1111/j.1399-0004.1977.tb00894.x.
Karyotypes from 50 persons with retinoblastoma confirmed by histopathological examination were studied by conventional staining and Giemsa-banding techniques. Two chromosomal anomalies were found. An interstitial deletion of the long arm of No. 13 chromosome was identified by Giemsa-banding in the karyotypes from a boy with unilateral retinoblastoma. Another boy with unilateral tumor had a karyotype of 47,XXY. These findings provide additional evidence that a deletion of chromosome No. 13, most likely involving band 13q14, is associated with the development of retinoblastoma. In conjunction with other reports, our findings also suggest that retinoblastoma may be found more frequently in children with chromosomal aneuploidy.
对经组织病理学检查确诊的50例视网膜母细胞瘤患者的核型，采用传统染色和吉姆萨显带技术进行研究。发现了两种染色体异常。通过吉姆萨显带技术，在一名单侧视网膜母细胞瘤男孩的核型中，鉴定出13号染色体长臂的间质缺失。另一名患有单侧肿瘤的男孩核型为47,XXY。这些发现提供了额外的证据，表明13号染色体缺失，很可能涉及13q14带，与视网膜母细胞瘤的发生有关。结合其他报告，我们的发现还表明，染色体非整倍体儿童中视网膜母细胞瘤可能更常见。
