拷贝数变异(copy number variation,CNV)是指染色体上大于1 kb的DNA片段的增加或者减少,主要表现为亚显微水平的缺失和重复。 致病性CNV可导致一类重要的遗传病——基因组病,其临床表型复杂多变,主要包括智力低下、发育滞后、面容异常、多发畸形等 [1] 。 More @Wikipedia
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