Go to JCI Insight
  • About
  • Editors
  • Consulting Editors
  • For authors
  • Publication ethics
  • Publication alerts by email
  • Advertising
  • Job board
  • Contact
  • Clinical Research and Public Health
  • Current issue
  • Past issues
  • By specialty
    • COVID-19
    • Cardiology
    • Gastroenterology
    • Immunology
    • Metabolism
    • Nephrology
    • Neuroscience
    • Oncology
    • Pulmonology
    • Vascular biology
    • All ...
  • Videos
    • Conversations with Giants in Medicine
    • Video Abstracts
  • Reviews
    • View all reviews ...
    • Pancreatic Cancer (Jul 2025)
    • Complement Biology and Therapeutics (May 2025)
    • Evolving insights into MASLD and MASH pathogenesis and treatment (Apr 2025)
    • Microbiome in Health and Disease (Feb 2025)
    • Substance Use Disorders (Oct 2024)
    • Clonal Hematopoiesis (Oct 2024)
    • Sex Differences in Medicine (Sep 2024)
    • View all review series ...
  • Viewpoint
  • Collections
    • In-Press Preview
    • Clinical Research and Public Health
    • Research Letters
    • Letters to the Editor
    • Editorials
    • Commentaries
    • Editor's notes
    • Reviews
    • Viewpoints
    • 100th anniversary
    • Top read articles

  • Current issue
  • Past issues
  • Specialties
  • Reviews
  • Review series
  • Conversations with Giants in Medicine
  • Video Abstracts
  • In-Press Preview
  • Clinical Research and Public Health
  • Research Letters
  • Letters to the Editor
  • Editorials
  • Commentaries
  • Editor's notes
  • Reviews
  • Viewpoints
  • 100th anniversary
  • Top read articles
  • About
  • Editors
  • Consulting Editors
  • For authors
  • Publication ethics
  • Publication alerts by email
  • Advertising
  • Job board
  • Contact
Beckwith-Wiedemann syndrome: imprinting in clusters revisited
Eamonn R. Maher, Wolf Reik
Eamonn R. Maher, Wolf Reik
Published February 1, 2000
Citation Information: J Clin Invest. 2000;105(3):247-252. https://doi.org/10.1172/JCI9340.
View: Text | PDF
Perspective Series

Beckwith-Wiedemann syndrome: imprinting in clusters revisited

  • Text
  • PDF
Abstract

Authors

Eamonn R. Maher, Wolf Reik

×

Figure 1

Options: View larger image (or click on image) Download as PowerPoint
 The imprinting cluster on human chromosome 11p15.5. The distal breakpoi...
The imprinting cluster on human chromosome 11p15.5. The distal breakpoint cluster region (BWSCR1) is indicated. Breakpoints within BWSCR1 disrupt KvLQT1. Solid red symbols indicate allelic silencing; green/white symbols indicate allelic transcription. The imprinting status of the INS (insulin) gene has not been defined in humans. Further details are included in the text.

Copyright © 2025 American Society for Clinical Investigation
ISSN: 0021-9738 (print), 1558-8238 (online)

Sign up for email alerts