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Abstract：
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.
摘要：
新技术在体质异常的常规诊断中的应用,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突变现象，其中许多基因组重排显然是在单个灾难性事件中获得的。这种现象被称为生色（来自希腊语“染色体”和“再生”）。在这里，我们报告了2例产前诊断时发现的基因组混沌。讨论了术语“染色体”和“染色体异步”以及遗传咨询的挑战。
