The origin of trisomy 22: Evidence for acrocentric chromosome-specific patterns of nondisjunction
The origin of trisomy 22: Evidence for acrocentric chromosome-specific patterns of nondisjunction
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DOI：
10.1002/ajmg.a.31918
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发表时间：
2007-10-01
影响因子：
2
通讯作者：
Hassold, Terry
中科院分区：
文献类型：
--
作者：
Hall, Heather E.;Surti, Urvashi;Hassold, Terry
22号染色体三体是临床上最常见的三体之一，但对22号染色体不分离的起源知之甚少。因此，我们开始研究130例22三体病例中额外染色体的起源。我们的结果表明，大多数22三体错误（> 96%）发生在卵子发生期间，其中大多数错误（接近90%）发生在第一次减数分裂期间。与其他三体一样，重组失败导致22号染色体不分离。与其他三体的数据一起，我们的研究结果表明，近端着丝粒染色体之间共享的不分离模式，但不是所有的非近端着丝粒染色体。(c)2007 Wiley-Liss，Inc.
Trisomy 22 is one of the most common trisomies in clinically recognized pregnancies, yet relatively little is known about the origin of nondisjunction for chromosome 22. Accordingly, we initiated studies to investigate the origin of the extra chromosome in 130 trisomy 22 cases. Our results indicate that the majority of trisomy 22 errors (> 96%) arise during oogenesis with most of these errors (similar to 90%) occurring during the first meiotic division. As with other trisomies, failure to recombine contributed to nondisjunction of chromosome 22. Taken together with data available for other trisomies, our results suggest patterns of nondisjunction that are shared among the acrocentric, but not all nonacrocentric, chromosomcs. (c) 2007 Wiley-Liss, Inc.