Suppr超能文献

视网膜母细胞瘤与13号染色体亚带缺失

Retinoblastoma and subband deletion of chromosome 13.

作者信息

Yunis J J, Ramsay N

出版信息

Am J Dis Child. 1978 Feb;132(2):161-3. doi: 10.1001/archpedi.1978.02120270059012.

Abstract

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.

摘要

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。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验