Retinoblastoma and subband deletion of chromosome 13.
Retinoblastoma and subband deletion of chromosome 13.
复制标题
视网膜母细胞瘤和 13 号染色体亚带缺失。
DOI：
10.1001/archpedi.1978.02120270059012
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发表时间：
1978
影响因子：
--
通讯作者：
N. Ramsay
中科院分区：
文献类型：
--
作者：
J. Yunis;N. Ramsay
用G显带的中期和前期染色体研究了两例视网膜母细胞瘤和13号染色体长臂间质缺失的患者。一名患者表现出几个先天性缺陷，发育迟缓，并删除带q14和q21。第二个病人表现出轻微的发育迟缓，一些轻微的先天性缺陷，和约一半的带q14的损失。根据这项研究和其他9项文献，现在可以暂时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。
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.