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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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