4.2 Article

The origin of trisomy 13

期刊

AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 143A, 期 19, 页码 2242-2248

出版社

WILEY-LISS
DOI: 10.1002/ajmg.a.31913

关键词

trisomy; recombination; maternal age; nondisjunction

资金

  1. NICHD NIH HHS [HD21341] Funding Source: Medline

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Trisomy 13 is one of the most common trisomies in clinically recognized pregnancies and one of the few trisomies identified in liveborns, yet relatively little is known about the errors that lead to trisomy 13. Accordingly, we initiated studies to investigate the origin of the extra chromosome in 78 cases of trisomy 13. Our results indicate that the majority of cases (> 91%) are maternal in origin and, similar to other autosomal trisomies, the extra chromosome is typically Clue to errors in meiosis I. Surprisingly, however, a large number of errors also occur during maternal meiosis II (similar to 37%), distinguishing trisomy 13 from other acrocentric and most nonacrocentric chromosomes. As with other trisomies, failure to recombine is an important contributor to nondisjunction of chromosome 13. (c) 2007 Wiley-Liss, Inc.

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