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
- NICHD NIH HHS [HD21341] Funding Source: Medline
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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