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The origin of trisomy 13
Author(s) -
Hall Heather E.,
Chan E. Ricky,
Collins Andrew,
Judis LuAnn,
Shirley Sofia,
Surti Urvashi,
Hoffner Lori,
Cockwell Annette E.,
Jacobs Patricia A.,
Hassold Terry J.
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31913
Subject(s) - nondisjunction , trisomy , meiosis , genetics , biology , chromosome , aneuploidy , gene
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 due to errors in meiosis I. Surprisingly, however, a large number of errors also occur during maternal meiosis II (∼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. © 2007 Wiley‐Liss, Inc.