Systematic Review Article

9号染色体倒位:致病性还是良性?所有临床报告的全面系统综述

卷 22, 期 5, 2022

发表于: 06 August, 2021

页: [385 - 400] 页: 16

弟呕挨: 10.2174/1566524021666210806161128

价格: $65

摘要

背景:9号染色体倒位(inv[9])是最常见的结构平衡染色体变异之一。9号染色体极易发生结构重排,特别是臂间倒位。不同的研究人员认为,具有不同断点的inv(9)可能是个体中几种异常情况的原因,而其他人则认为它是一种良性变体。据我们所知,关于这种倒置的影响尚未达成共识。 目的:本研究旨在探讨inv(9)在所有可能的临床条件下对该异常发生的致病/良性影响。 方法:通过PubMed、MalaCards、Google Scholar和NORD,以及inv(9)、臂周倒位inv(9)和9号染色体变体的搜索词来收集关于inv(9)的研究。此外,还调查了inv(9)的发生率以及携带该变体的个体的核型和临床表现。 结果:所收集的研究表明,inv(9)与各种疾病有关,如先天性异常、生长迟缓、不育、习惯性流产和癌症。人们与这种变体相关的临床特征在不同的生长阶段有所不同。此外,在特定时期内没有共同的临床表现。 结论:尽管没有确凿的证据证明这种重排的致病性,但对inv(9)进行产前遗传咨询以及进一步的临床和分子研究将有助于解决9号染色体相关问题。

关键词: 断点,inv(9),核型,臂间倒位,临床表现,生殖障碍。

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