花叶杂色非整倍体 (MVA) 是一种罕见的疾病，其中影响每个细胞中不同染色体（使其变得杂色）的异常染色体计数（即非整倍体）仅在一定数量的细胞中发现（使其成为马赛克）。 MVA 的特点是存在各种发育缺陷，尽管其罕见，但它提供了一种独特的临床方案来了解人类染色体不稳定和拷贝数变异的后果。对 MVA 患者、基因工程小鼠模型和功能性细胞研究的研究发现，遗传原因是纺锤体组装检查点成分以及有丝分裂期间中心体动力学相关蛋白的突变。 MVA 伴随着肿瘤易感性（取决于遗传基础）以及细胞和系统应激，包括慢性免疫反应和相关的临床影响。© 2024。Springer Nature Limited。

Mosaic variegated aneuploidy (MVA) is a rare condition in which abnormal chromosome counts (that is, aneuploidies), affecting different chromosomes in each cell (making it variegated) are found only in a certain number of cells (making it mosaic). MVA is characterized by various developmental defects and, despite its rarity, presents a unique clinical scenario to understand the consequences of chromosomal instability and copy number variation in humans. Research from patients with MVA, genetically engineered mouse models and functional cellular studies have found the genetic causes to be mutations in components of the spindle-assembly checkpoint as well as in related proteins involved in centrosome dynamics during mitosis. MVA is accompanied by tumour susceptibility (depending on the genetic basis) as well as cellular and systemic stress, including chronic immune response and the associated clinical implications.© 2024. Springer Nature Limited.