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Exceptional Complex Chromosomal Rearrangements in Three Generations

机译：三代中异常复杂的染色体重排

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摘要

We report an exceptional complex chromosomal rearrangement (CCR) found in three individuals in a family that involves 4 chromosomes with 5 breakpoints. The CCR was ascertained in a phenotypically abnormal newborn with additional chromosomal material on the short arm of chromosome 4. Maternal karyotyping indicated that the mother carried an apparently balanced CCR involving chromosomes 4, 6, 11, and 18. Maternal transmission of the derivative chromosome 4 resulted in partial trisomy for chromosomes 6q and 18q and a partial monosomy of chromosome 4p in the proband. Further family studies found that the maternal grandmother carried the same apparently balanced CCR as the proband’s mother, which was confirmed using the whole chromosome painting (WCP) FISH. High resolution whole genome microarray analysis of DNA from the proband’s mother found no evidence for copy number imbalance in the vicinity of the CCR translocation breakpoints, or elsewhere in the genome, providing evidence that the mother’s and grandmother’s CCRs were balanced at a molecular level. This structural rearrangement can be categorized as an exceptional CCR due to its complexity and is a rare example of an exceptional CCR being transmitted in balanced and/or unbalanced form across three generations.
机译：我们报告了一个异常复杂的染色体重排（CCR），该家族在一个涉及4个染色体和5个断点的家庭中的3个人中发现。在表型异常的新生儿中确定了CCR，在4号染色体的短臂上有额外的染色体物质。母亲核型分析表明母亲携带了明显平衡的CCR，涉及4、6、11和18号染色体。在先证者中导致了染色体6q和18q的部分三体性和染色体4p的部分三体性。进一步的家庭研究发现，外婆的祖母携带的CCR与先证者的母亲有着相同的表观平衡，这一点已通过完整的染色体绘画（WCP）FISH得到证实。先证者母亲的DNA的高分辨率全基因组微阵列分析发现，没有证据表明CCR易位断点附近或基因组其他地方的拷贝数不平衡，这提供了母亲和祖母的CCR在分子水平上平衡的证据。由于其复杂性，这种结构重排可以归类为特殊CCR，并且是特殊CCR在三代之间以平衡和/或不平衡形式传输的罕见示例。

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