Background Chromoanagenesis events encompassing chromoanasynthesis, chromoplexy, and chromothripsis are described in cancers and can result in highly complex chromosomal rearrangements derived from 'all-at-once' catastrophic cellular events. The complexity of these rearrangements and the original descriptions in cancer cells initially led to the assumption that it was an acquired anomaly. While rare, these phenomena involving chromosome 1 have been reported a few individuals in a constitutional setting. Case presentation Here, we describe a newborn baby who was initially referred for cytogenetic testing for multiple congenital anomalies including cystic encephalomalacia, patent ductus arteriosus, inguinal hernia, and bilateral undescended testicles. Chromosome analysis was performed and revealed a derivative chromosome 1 with an 1q24-q31 segment inserted into 1q42.13 resulting in gain of 1q24-q31. Whole genome SNP microarray analysis showed a complex pattern of copy number variants with four gains and one loss involving 1q24-q31. Mate pair next-generation sequencing analysis revealed 18 chromosome breakpoints, six gains along an 1q24-q31 segment, one deletion of 1q31.3 segment and one deletion of 1q42.13 segment, which is strongly evocative of a chromoanasynthesis event for developing this complex rearrangement. Parental chromosome analyses were performed and showed the same derivative chromosome 1 in the mother. Conclusions To our knowledge, our case is the first case with familial constitutional chromoanagenesis involving chromosome 1q24-q42. This report emphasizes the value of performing microarray and mate pair next-generation sequencing analysis for individuals with germline abnormal or complex chromosome rearrangements.

中文翻译：

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涉及染色体 1q 的复杂染色体重排的稳定传递，这些染色体来源于组成性染色体发生。

背景 包括 chromoanasynthesis、chromoplexy 和 chromothripsis 在内的 Chromoanagenesis 事件在癌症中被描述，并且可导致源自“一次性”灾难性细胞事件的高度复杂的染色体重排。这些重排的复杂性和癌细胞的原始描述最初导致假设它是一种获得性异常。虽然罕见，但这些涉及 1 号染色体的现象已在体质环境中报告了少数个体。病例介绍 在这里，我们描述了一名新生儿，他最初因多种先天性异常进行细胞遗传学检测，包括囊性脑软化症、动脉导管未闭、腹股沟疝和双侧睾丸未降。进行染色体分析并揭示衍生染色体 1，其中 1q24-q31 片段插入 1q42.13，导致 1q24-q31 增加。全基因组 SNP 微阵列分析显示拷贝数变异的复杂模式，其中涉及 1q24-q31 的四个增益和一个丢失。配偶对下一代测序分析显示 18 个染色体断点，6 个沿 1q24-q31 片段增加，1 个 1q31.3 片段缺失和 1 个 1q42.13 片段缺失，这强烈唤起了发展这种复杂重排的染色体合成事件. 进行了亲本染色体分析，并在母亲身上显示了相同的衍生染色体 1。结论 据我们所知，我们的病例是第一个涉及染色体 1q24-q42 的家族性构成性染色体发生异常的病例。