To ERR (meiotically) is human: The genesis of human aneuploidy

被引:1781
作者
Hassold, T [1 ]
Hunt, P [1 ]
机构
[1] Case Western Reserve Univ, Dept Genet, Cleveland, OH 44106 USA
关键词
D O I
10.1038/35066065
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Aneuploidy (trisomy or monosomy) is the most commonly identified chromosome abnormality in humans. occurring in at least 5% of all clinically recognized pregnancies. Most aneuploid conceptuses perish in utero, which makes this the leading genetic cause of pregnancy loss. However, some aneuploid fetuses survive to term and, as a class, aneuploidy is the most common known cause of mental retardation. Despite the devastating clinical consequences of aneuploidy, relatively little is known of how trisomy and monosomy originate in humans. However, recent molecular and cytogenetic approaches are now beginning to shed light on the non-disjunctional processes that lead to aneuploidy.
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页码:280 / 291
页数:12
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