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- W3032048596 abstract "染色体是遗传物质基因的载体.人类有3～4万个基因,分别位于23对染色体上,组成24个基因连锁群[1],如果染色体数目或结构发生异常,则会导致基因群的增减或位置转移,扰乱遗传物质或基因间的平衡,而产生多种畸形或异常综合征.现已发现人类染色体数目异常和结构畸变有1万多种,已确定或报道的染色体综合征100多种.最近,我们发现1例罕见的染色体异常核型,现报告如下。" @default.
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- W3032048596 date "2011-05-11" @default.
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- W3032048596 title "A de nove reciprocal translocation t(5;8) with typical trisomy 21" @default.
- W3032048596 doi "https://doi.org/10.3760/cma.j.issn.1009-9158.2011.05.018" @default.
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