Suppr超能文献

三代人中的一系列染色体畸变:一个脆弱的16号染色体长臂、一个额外片段和一条重排的20号染色体。

A cascade of chromosomal aberrations in three generations: a fragile 16q, an extra fragment and a rearranged 20.

作者信息

Côté G B, Papadakou-Lagoyanni S, Pantelakis S

出版信息

Ann Genet. 1978 Dec;21(4):209-14.

PMID:314256
Abstract

The propositus' grandmother has a fragile 16q and belongs to a large family where several abortions and congenital anomalies were recorded. The portion distal to the fragile site was inherited as an extra fragment by the proposius' father who has it in 11% of his lymphocyte metaphases. This phenotypically harmless fragment has a high affinity for satellited chromosomes and was probably a main factor in the causation of the rearrangement that produced the partial trisomy 20p found in the propositus.

摘要

先证者的祖母有一条脆性16号染色体,且属于一个有多次流产和先天性异常记录的大家庭。脆性位点远端的部分作为一个额外片段被先证者的父亲遗传,其淋巴细胞中期相中11%含有该片段。这个表型无害的片段对随体染色体有高度亲和力,可能是导致先证者出现部分20号染色体短臂三体的重排的主要因素。

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