基因组病(genomic disorder)是指基因组DNA序列异常重组造成的邻接基因重排而引起的某些综合症,如DiGeorge综合征、 1A型进行性神经性腓骨肌萎缩症。[1][2]
基因组病包含微缺失综合征和重复综合征(Duplication syndormes)。[3]
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