The present study aimed to perform chromosome examination and pedigree analysis on three patients with semen abnormality who had undergone in vitro fertilization–embryo transfer (IVF‐ET). Peripheral blood cell culture and chromosome karyotyping were performed on 4,200 individuals who had undergone chromosome examination. Among them, 155 pregnant women who had successfully conceived were subjected to amniotic cell culture and chromosome karyotyping and those with abnormal chromosome karyotype were further subjected to C‐banding and whole‐genome sequencing. Mosaicism for a 46,X,inv(Y)(p11.2q11.2)pat/45,X karyotype was identified in the probands and immediate adult male relatives. The incidence of this mosaicism in the study population was only 0.07% (3/4,200), which is reported for the first time. For the proband of pedigree A, the results of whole‐genome sequencing and other tests were normal, and the chromosome karyotype of IVF fetuses was 46,X,inv(Y)(p11.2q11.2)pat. All the male members of three pedigrees have normal phenotypes, with no features of Turner's syndrome (45,X) or hermaphroditism (45,X/46,XY), suggesting that the inverted Y chromosome is extremely unstable and particularly susceptible to loss in somatic cells. So we speculate this karyotype may be a unique type of inverted Y chromosome in somatic cells.

中文翻译：

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三名 46,X,inv(Y)(p11.2q11.2)pat/45,X 患者及其谱系分析

本研究旨在对三名接受体外受精-胚胎移植（IVF-ET）的精液异常患者进行染色体检查和系谱分析。对 4,200 名接受过染色体检查的个体进行了外周血细胞培养和染色体核型分析。其中，对155名成功受孕的孕妇进行羊膜细胞培养和染色体核型分析，对染色体核型异常的孕妇进行C显带和全基因组测序。在先证者和直系成年男性亲属中发现了 46,X,inv(Y)(p11.2q11.2)pat/45,X 核型的镶嵌现象。这种镶嵌现象在研究人群中的发生率仅为 0.07% (3/4,200)，这是首次报道。对于谱系 A 的先证者，全基因组测序等检查结果正常，试管婴儿染色体核型为46,X,inv(Y)(p11.2q11.2)pat。三个谱系的所有男性成员都具有正常的表型，没有特纳综合征（45，X）或雌雄同体（45，X/46，XY）的特征，表明倒置的 Y 染色体极其不稳定，特别容易在体细胞中丢失。细胞。所以我们推测这种核型可能是体细胞中一种独特的倒Y染色体。这表明倒置的 Y 染色体极其不稳定，特别容易在体细胞中丢失。所以我们推测这种核型可能是体细胞中一种独特的倒Y染色体。这表明倒置的 Y 染色体极其不稳定，特别容易在体细胞中丢失。所以我们推测这种核型可能是体细胞中一种独特的倒Y染色体。