双侧视网膜母细胞瘤伴新发染色体组型平衡易位t(2;9)(q11;p11)
Bilateral retinoblastoma with de novo constitutional balanced translocation t(2;9)(q11;p11).
作者信息
Balestrazzi P, Mattei M G, Baeteman M A, Mattei J F, Giraud F
出版信息
Eur J Pediatr. 1984 Feb;141(4):250-1. doi: 10.1007/BF00572772.
PMID:6734677
Abstract
The case of a 6-year-old boy with bilateral retinoblastoma (RB) and apparently de novo balanced translocation t(2;9)(q11;p11) is presented. The normality of 13q14 chromosome region has been confirmed using high resolution techniques and Esterase D assay. The hypothesis that this RB might be correlated to the translocation is discussed.
摘要
本文报告了一例6岁双侧视网膜母细胞瘤（RB）患儿，其存在明显的新发平衡易位t(2;9)(q11;p11)。已使用高分辨率技术和酯酶D检测证实了13q14染色体区域的正常性。讨论了该RB可能与易位相关的假说。
Zotero 插件