Suppr超能文献

[视网膜母细胞瘤与平衡染色体修饰的传递]

[Retinoblastoma and transmission of balanced chromosomal modifications].

作者信息

Bec P, Arne J L, Bourrouillou G, Colombies P

出版信息

Mod Probl Ophthalmol. 1977;18:160-4.

PMID:876047
Abstract

Two cases of retinoblastoma in two children showing a chromosomal rearrangement in the karyotype were reported. In the first case, a pericentric inversion of chromosome 9 was observed both in the child and his father. In the second case, a reciprocal translocation t (3;12)(q29;q15) present also in the paternal karyotype was identified. A strict connection cannot be established between the tumour itself and the family chromosomal aberrations, but these observations raise the problem of a possible "interchromosomal effect".

摘要

报道了两名患有视网膜母细胞瘤的儿童,其核型显示出染色体重排。在第一个病例中,在患儿及其父亲体内均观察到9号染色体的臂间倒位。在第二个病例中,鉴定出一种相互易位t(3;12)(q29;q15),其也存在于父本核型中。虽然无法在肿瘤本身与家族染色体畸变之间建立严格的联系,但这些观察结果提出了可能存在“染色体间效应”的问题。

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