Suppr超能文献

X染色体臂间倒位:一项新观察及对已发表病例的综述

Pericentric inversions of the X chromosome. A new observation and review of the published cases.

作者信息

Pfeiffer R A, Kossakiewicz M, Baisch C

出版信息

J Genet Hum. 1986 Aug;34(3-4):331-7.

PMID:3760837
Abstract

A pericentric inversion of the X chromosome-inv(X) (p11.3q22) is transmitted in 3 generations. Male and female carriers are normal. The proposita is tetraplegic, severely retarded and suffers from general seizures. Grand mal seizures are known in the mother and grandmother. Different proportions of inactive X chromosomes in the proposita and the normal sister are discussed. The published cases of inv(X) are reviewed.

摘要

X染色体的臂间倒位——inv(X)(p11.3q22)在三代人中传递。男性和女性携带者均正常。先证者四肢瘫痪、严重智力发育迟缓且患有全身性癫痫。已知母亲和外祖母有癫痫大发作病史。文中讨论了先证者及其正常姐妹中失活X染色体的不同比例。对已发表的inv(X)病例进行了综述。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验