背景:9号染色体的反转(inv[9])被认为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,特别是周边倒置。各种研究人员认为,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:本研究旨在讨论inv(9)在这种异常发生中检测到的所有可能的临床状况中的致病/良性作用。
方法:通过PubMed收集了inv(9)的研究,MalaCards,谷歌学者,和NORD,连同inv(9)的搜索词,pericentricinv(9),和9号染色体变异。此外,研究了inv(9)的发生率和核型,以及与该变异相关的个体的临床表现。
结果:所审查的研究集表明,inv(9)与先天性异常等各种疾病有关,生长迟缓,不孕症,反复妊娠丢失,和癌症。在人中与该变体相关的临床特征在生长阶段之间变化。Further,在特定时期没有共同的临床发现.
结论:尽管没有确凿的证据证明这种重排的致病性,产前遗传咨询inv(9)和进一步的临床和分子研究将有助于9号染色体相关问题。
Inversion of chromosome 9 (inv[9]) is known as one of the most common structural balanced chromosomal variations. Chromosome 9 is highly susceptible to structural rearrangements, specifically to pericentric inversions. Various investigators have posited that inv(9) with different breakpoints could be the cause of several abnormal conditions in individuals, whereas others have considered it a benign variant. To our knowledge, a consensus regarding the effects of this inversion has yet to emerge.
This study aims to discuss the pathogenic/benign effects of inv(9) in all possible clinical conditions detected in the occurrence of this abnormality.
Studies on inv(9) were collected via PubMed, MalaCards, Google Scholar, and NORD, along with the search terms of inv(9), pericentric inv(9), and chromosome 9 variants. Additionally, the incidence of inv(9) and the karyotype and clinical findings of individuals reported with this variant were investigated.
The collection of the studies reviewed shows that inv(9) is associated with various conditions such as congenital anomalies, growth retardation, infertility, recurrent pregnancy loss, and cancer. The clinical features associated with this variant in humans vary between growth stages. Further, there have been no shared clinical findings in a specific period.
Although there is no conclusive evidence for the pathogenicity of this rearrangement, prenatal genetic counseling on inv(9) and further clinical and molecular studies would be helpful in chromosome 9-related problems.