多样化嵌合非整倍体(mosaic variegated aneuploidy,MVA )病为常染色体隐性遗传病,是由BUB1B基因突变造成的,与胚胎性横纹肌肉瘤显著相关,与肾母细胞瘤以及白血病也有一定相关性。
参考资料:
1. Lindor NM. et al. Concise handbook of familial cancer susceptibility syndromes - second edition. J Natl Cancer Inst Monogr. 2008;(38):1-93.
2. Hanks S, et al. Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B. Nat Genet. 2004;36(11):1159–1161.
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