rss
J Med Genet 2006;43:660-664 doi:10.1136/jmg.2005.037887
  • Original article

Redefining the risks of prenatally ascertained supernumerary marker chromosomes: a collaborative study

  1. M D Graf1,
  2. L Christ1,
  3. J T Mascarello2,
  4. P Mowrey3,
  5. M Pettenati4,
  6. G Stetten5,
  7. P Storto6,
  8. U Surti7,
  9. D L Van Dyke8,
  10. G H Vance9,
  11. D Wolff10,
  12. S Schwartz1
  1. 1Center for Human Genetics Laboratory and Department of Genetics, Case Western Reserve University, Cleveland, OH, USA
  2. 2Children’s Hospital-San Diego, San Diego, CA, USA
  3. 3LabCorp, Research Triangle Park, NC, USA
  4. 4Wake Forest School of Medicine, Winston-Salem, NC, USA
  5. 5Johns Hopkins University School of Medicine, Baltimore, MD, USA
  6. 6Michigan State University, East Lansing, MI, USA
  7. 7Magee Women’s Hospital and University of Pittsburgh School of Medicine, Pittsburgh, PA, USA
  8. 8Henry Ford Hospital, Detroit, MI, USA
  9. 9Indiana University School of Medicine, Indianapolis, IN, USA
  10. 10Medical University of South Carolina, Charleston, SC, USA
  1. Correspondence to:
 Dr Stuart Schwartz
 Department of Human Genetics MC0077, 5841 S. Maryland Ave, Rm L155, Chicago, IL 60637, USA; sschwart{at}bsd.uchicago.edu
  • Accepted 21 October 2005
  • Revised 18 October 2005

Abstract

Background: A marker chromosome is defined as a structurally abnormal chromosome that cannot be identified by routine cytogenetics. The risk for phenotypic abnormalities associated with a marker chromosome depends on several factors, including inheritance, mode of ascertainment, chromosomal origin, and the morphology, content, and structure of the marker.

Methods: to understand the karyotype-phenotype relationship of prenatally ascertained supernumerary de novo marker chromosomes, we combined data from prenatal cases obtained from 12 laboratories with those from studies in the literature. We were able to obtain cytogenetic and phenotypic data from 108 prenatally ascertained supernumerary de novo marker chromosomes to refine the phenotypic risk associated with these markers. Because of the growing number of cases and because more techniques are available to delineate marker morphology, we have been able to group risk estimates into subcategories, such as by marker type and whether there are ultrasound abnormalities.

Results: If a de novo supernumerary marker chromosome is found prenatally, our data suggest there is a 26% risk for phenotypic abnormality when there is no other information defining the marker (such as chromosomal origin or information about the existing phenotype). However, if high resolution ultrasound studies are normal, this risk reduces to 18%.

Conclusions: Our findings strongly support the value of additional genetic studies for more precisely defining the risk in individual cases involving marker chromosomes.

Footnotes

  • Competing interests: none declared

This Article

  1. Abstract
  2. Full text
  3. PDF

Responses

  1. Submit a response
  2. No responses published

Register for free content

The full back archive is now available for all BMJ Journals. Institutional subscribers may access the entire archive as part of their subscription. Personal subscribers will also have access to all content when logged in. Non-subscribers who register have free access to all articles published before 2006 right back to volume 1 issue 1. Register here to access the free archive of all BMJ Journals.

Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.