Pericentric inversion 9 is a common chromosome variant with an incidence of approximately 1.6% in the general population [1]. Despite the relatively high incidence of this finding, there is debate in the literature over its clinical significance resulting in confusion about how to counsel patients regarding the medical management of this variant.

2013年4月1日 · Chromosome 9 presents the highest degree of morphological variations among the non-acrocentric human chromosomes. Variants include 9qh+, 9cenh+, 9ph+, 9qh-, or inv (9) (p11q13), and they are commonly found in routine cytogenetics, with an overall frequency of approximately 1.5% in the general population [1].

One of the most common and benign variants of normal human karyotype is pericentric inversion of chromosome 9 (inv[9][p11q13]). Despite being categorized as a normal variant, there are several reports of its association with various disease ...

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 …

2024年10月2日 · Pericentric inversion of chromosome 9, referred to as inv (9), is a frequent finding in human karyotype, ranging from 1% to 4% in the general population. Among the countless possibilities of pericentric inversions of chromosome 9, the inv (9) (p12q13) variant is the most common.

inv（9）（p11;q12）→9号染色体臂间倒位. “多态性” 这个词是遗传学里面一个我认为最友善的专业术语，不仅染色体具有多态性， 基因组拷贝数变异 （称为CNV）和 单个位点的变异 （称为SNP）也同样有多态性！ 只是CNV和SNP常会在海量的数据分析过程中被过滤掉，因此大家甚少在报告中看到这两种多态性的改变。 而染色体多态性通常是核型分析可见的并且会在核型分析报出的，是一种“能见到”的异常。 但是见到这几种异常别紧张，多态性的定心丸已奉上！ 本篇创 …

Pericentric inversions of chromosome number 9 have been studied in 4 different probands: a normal female with designation 46,XX,inv (9) (p12q13); a male with Down syndrome designated as 47,XY,+21,inv (9))p13q13); a premature infant with multiple, congenital malformations who was 46,XX,inv (9) (p12q21), and a Down syndrome proband with 47,XYqs,+2...

Constitutional pericentric inversion of chromosome 9 [inv (9)] occurs in 0.8 to 2% of the normal population and has long been considered a normal variant. It is controversial whether inv...

2005年7月1日 · The inv(9) in these patients may be a de novo inversion that cytogenetically mimics the constitutional inv(9) heteromorphism. Alternatively, it may be the result of neocentromere activation in 9q due to epigenetic events associated with the disease in these patients that results in a metacentric chromosome similarly mimicking the constitutional ...

2022年12月16日 · inv(9)跟9qh的重复序列有关，可以分成很多亚型。 9qh上的重复序列导致inv(9)跟普通倒位不一样，使其对染色体结构的改变局限在重复序列部内部，不会造成太大的影响。