Pericentric inversions are among the known polymorphisms detected in the general population at a frequency of 1-2%. Despite their generally benign nature, pericentric inversions affect the reproductive potential of carriers by increasing the risk for unbalanced live-born offspring, miscarriages, or other fertility problems. Here we present a novel large pericentric inversion of chromosome 9, inv(9)(p23q22.3), detected in 30 heterozygote carriers, 24 from seven apparently unrelated families and 6 isolated patients, where the probands were mainly referred for fertility and prenatal problems. The inversion carries a significant risk for recombinant abnormal chromosomes, as in two families one supernumerary rec(9)dup(9p) and one rec(9)dup(9q) were identified, leading to neonatal death and miscarriage, respectively. The inversion carriers were identified by three different laboratories in Greece, Cyprus and Germany respectively, however all carriers have Southeast European origin. The inversion appears to be more frequent in the Greek population, as the majority of the carriers were identified in Greece. We were able to determine that the inversion is identical in all individuals included in the study by applying a combination of several methodologies, such as karyotype, fluorescence in situ hybridization (FISH), chromosomal microarrays (CMA) and haplotype analysis. In addition, haplotype analysis supports that the present inversion is identical by descent (IBD) inherited from a single common ancestor. Our results are, therefore, highly indicative of a founder effect of this inversion, presumably reflecting an event that was present in a small number of individuals that migrated to the current Southeast Europe/Northern Greece from a larger population.

中文翻译：

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在东南人口中有生育问题的无关人群中的新型近心反转inv（9）（p23q22.3）。

在一般人群中以1-2％的频率检测到的已知的多态性是周向反转。尽管它们具有一般的良性，但外周中心倒置会通过增加不平衡的活产后代，流产或其他生育问题的风险来影响携带者的繁殖潜力。在这里，我们介绍了一种新颖的大型第9号染色体大中轴倒置，它在30个杂合子携带者中检出，其中7个看似无关的家庭中有24个和6个孤立的患者，其中先证者主要是因为生育和产前问题。倒置对重组异常染色体具有重大风险，因为在两个家族中，鉴定出一个多余的rec（9）dup（9p）和一个rec（9）dup（9q），分别导致新生儿死亡和流产。反向携带者分别由希腊，塞浦路斯和德国的三个实验室鉴定，但是所有携带者都起源于东南欧。由于大多数携带者在希腊被发现，因此在希腊人口中反演似乎更为频繁。通过应用多种方法的组合，例如核型，荧光原位杂交（FISH），染色体微阵列（CMA）和单倍型分析，我们能够确定该研究中所有个体的倒置均相同。此外，单倍型分析支持通过从单个共同祖先继承的血统（IBD），当前的反转是相同的。因此，我们的结果高度表明了这种反演的创始人效应，