The use of new technologies in the routine diagnosis of constitutional abnormalities, such as high-resolution chromosomal microarray and next-generation sequencing, has unmasked new mechanisms for generating structural variation of the human genome. For example, complex chromosome rearrangements can originate by a chromosome catastrophe phenomenon in which numerous genomic rearrangements are apparently acquired in a single catastrophic event. This phenomenon is named chromoanagenesis (from the Greek “chromo” for chromosome and “anagenesis” for rebirth). Herein, we report 2 cases of genomic chaos detected at prenatal diagnosis. The terms “chromothripsis” and “chromoanasynthesis” and the challenge of genetic counseling are discussed.
Cytogenet Genome Res

中文翻译：

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在两个产前病例中检测到基因组混乱（多拷贝数变异和结构重组）

新技术在体质异常的常规诊断中的使用，例如高分辨率染色体微阵列和下一代测序，揭示了产生人类基因组结构变异的新机制。例如，复杂的染色体重排可能源于染色体灾难现象，其中在单个灾难性事件中显然获得了许多基因组重排。这种现象被命名为chromoanagenesis（来自希腊语“chromo”代表染色体和“anagenesis”代表重生）。在此，我们报告了 2 例在产前诊断中检测到的基因组混乱病例。讨论了术语“chromothripsis”和“chromoanasynthesis”以及遗传咨询的挑战。
细胞遗传基因组研究