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microdeletion syndrome
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microdeletion syndrome
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医学
微缺失综合征
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microdeletion syndrome
微缺失综合征
由微小的、经传统细胞遗传学分析难以发现的染色体缺失导致的具有复杂临床表现的遗传性疾病。缺失片段长度小于5兆碱基对(Mb),是基因组疾病中的常见类型。常见的临床表型有生长发育异常、智力发育迟缓、特殊面容、内脏器官畸形、内分泌异常、精神行为改变等。
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