Research Article

The origin of trisomy 13†‡

  1. Heather E. Hall1,
  2. E. Ricky Chan2,
  3. Andrew Collins3,
  4. LuAnn Judis2,
  5. Sofia Shirley1,
  6. Urvashi Surti4,5,
  7. Lori Hoffner4,
  8. Annette E. Cockwell6,
  9. Patricia A. Jacobs6,
  10. Terry J. Hassold1,*

Article first published online: 12 SEP 2007

DOI: 10.1002/ajmg.a.31913

Issue

American Journal of Medical Genetics Part A

American Journal of Medical Genetics Part A

Volume 143A, Issue 19, pages 2242–2248, 1 October 2007

Additional Information

How to Cite

Hall, H. E., Chan, E. R., Collins, A., Judis, L., Shirley, S., Surti, U., Hoffner, L., Cockwell, A. E., Jacobs, P. A. and Hassold, T. J. (2007), The origin of trisomy 13. American Journal of Medical Genetics Part A, 143A: 2242–2248. doi: 10.1002/ajmg.a.31913

Author Information

  1. 1

    Center for Reproductive Biology and School of Molecular Biosciences, Washington State University, Pullman, Washington

  2. 2

    Department of Genetics and The Center for Human Genetics, Case Western Reserve University and University Hospitals of Cleveland, Cleveland, Ohio

  3. 3

    Human Genetics Division, University of Southampton School of Medicine, Southampton, UK

  4. 4

    Magee-Womens Research Institute, Pittsburgh, Pennsylvania

  5. 5

    Department of Pathology, University of Pittsburgh, Pittsburgh, Pennsylvania

  6. 6

    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, UK

*School of Molecular Biosciences, Fulmer Hall 542, Washington State University, Mail drop 644660, Pullman, WA 99164-4660.

  1. †

    How to cite this article: Hall HE, Chan ER, Collins A, Judis L, Shirley S, Surti U, Hoffner L, Cockwell AE, Jacobs PA, Hassold TJ. 2007. The origin of trisomy 13. Am J Med Genet Part A 143A:2242–2248.

  2. ‡

    Heather E. Hall and E. Ricky Chan contributed equally to this manuscript.

Publication History

  1. Issue published online: 24 SEP 2007
  2. Article first published online: 12 SEP 2007
  3. Manuscript Accepted: 29 MAY 2007
  4. Manuscript Received: 11 APR 2007

Funded by

  • NIH. Grant Number: HD21341

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Keywords:

  • trisomy;
  • recombination;
  • maternal age;
  • nondisjunction

Abstract

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.

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