22号三体的起源：近端着丝粒染色体特异性不分离模式的证据。

The origin of trisomy 22: evidence for acrocentric chromosome-specific patterns of nondisjunction.

作者信息

Hall Heather E, Surti Urvashi, Hoffner Lori, Shirley Sofia, Feingold Eleanor, Hassold Terry

机构信息

Center for Reproductive Biology and School of Molecular Biosciences, Washington State University, Pullman, Washington 99164-4660, USA.

出版信息

Am J Med Genet A. 2007 Oct 1;143A(19):2249-55. doi: 10.1002/ajmg.a.31918.

DOI:10.1002/ajmg.a.31918

PMID:17705154

Abstract

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 ( approximately 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, chromosomes.

摘要

22三体是临床确诊妊娠中最常见的三体之一，但对于22号染色体不分离的起源了解相对较少。因此，我们开展了研究，以调查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%）发生在卵子发生过程中，其中大部分错误（约90%）发生在第一次减数分裂期间。与其他三体一样，未能发生重组导致了22号染色体的不分离。结合其他三体的现有数据，我们的结果提示了近端着丝粒染色体（但并非所有非近端着丝粒染色体）共有的不分离模式。