Skip to main content

Main menu

  • Online first
    • Online first
  • Current issue
    • Current issue
  • Archive
    • Archive
  • Submit a paper
    • Online submission site
    • Information for authors
  • About the journal
    • About the journal
    • Editorial board
    • Information for authors
    • FAQs
    • Thank you to our reviewers
      • Thank you to our reviewers
    • American Federation for Medical Research
  • Help
    • Contact us
    • Feedback form
    • Reprints
    • Permissions
    • Advertising
  • BMJ Journals

User menu

  • Login

Search

  • Advanced search
  • BMJ Journals
  • Login
  • Facebook
  • Twitter
JIM

Advanced Search

  • Online first
    • Online first
  • Current issue
    • Current issue
  • Archive
    • Archive
  • Submit a paper
    • Online submission site
    • Information for authors
  • About the journal
    • About the journal
    • Editorial board
    • Information for authors
    • FAQs
    • Thank you to our reviewers
    • American Federation for Medical Research
  • Help
    • Contact us
    • Feedback form
    • Reprints
    • Permissions
    • Advertising

122 EXPANDING THE PHENOTYPE OF MOSAIC TRISOMY 20.

M. J.H. Willis, L. M. Bird, M. Dell'Aquilla, M. C. Jones
DOI: 10.2310/6650.2005.X0004.121 Published 7 January 2016
M. J.H. Willis
1Department of Pediatrics
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
L. M. Bird
1Department of Pediatrics
3Children's Hospital San Diego
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
M. Dell'Aquilla
1Department of Pediatrics
2Department of Medicine, University of California, San Diego
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
M. C. Jones
1Department of Pediatrics
3Children's Hospital San Diego
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • Article
  • eLetters
  • Info & Metrics
  • PDF
Loading

Abstract

Mosaic trisomy 20 is one of the more common cytogenetic abnormalities found on amniocentesis or chorionic villus sampling. Studies have shown that outcome is normal in 90-93% of prenatally diagnosed cases. There are, however, reports in the literature of children with mosaic trisomy 20 described as having an assortment of dysmorphic features and varying levels of developmental delay. Unfortunately, the literature has not defined a specific phenotype for this entity. Here we report three patients diagnosed prenatally with mosaic trisomy 20. Over a number of years of follow-up it has become apparent that there are some striking similarities among the three. Comparison between our patients and the literature cases suggests a more consistent phenotype than has previously been suggested. Recurring features include spinal abnormalities (including spinal stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation and possible colonic agangliosis, sloped shoulders, and significant learning disabilities despite normal intelligence. These findings may be overlooked on routine history and physical exam or assumed to be standard pediatric problems. It is not our intention to suggest that there is a distinctive face for this entity but to suggest that a subtle phenotype does exist. We have attempted to identify a set of findings for which any child diagnosed with mosaic trisomy 20 should be assessed or followed even in the presence of an apparently normal physical exam at birth.

Log in using your username and password

Forgot your user name or password?

Log in through your institution

You may be able to gain access using your login credentials for your institution. Contact your library if you do not have a username and password.
If your organization uses OpenAthens, you can log in using your OpenAthens username and password. To check if your institution is supported, please see this list. Contact your library for more details.

PURCHASE SHORT TERM ACCESS

Pay Per Article - You may access this article (from the computer you are currently using) for 1 day for US$37.00

Regain Access - You can regain access to a recent Pay per Article purchase if your access period has not yet expired.

Previous
Back to top
Vol 54 Issue 1 Table of Contents
  • Table of Contents
  • Index by author
Email

Thank you for your interest in spreading the word on JIM.

NOTE: We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. We do not capture any email address.

Enter multiple addresses on separate lines or separate them with commas.
122 EXPANDING THE PHENOTYPE OF MOSAIC TRISOMY 20.
(Your Name) has sent you a message from JIM
(Your Name) thought you would like to see the JIM web site.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.
Alerts
Sign In to Email Alerts with your Email Address
Citation Tools
122 EXPANDING THE PHENOTYPE OF MOSAIC TRISOMY 20.
M. J.H. Willis, L. M. Bird, M. Dell'Aquilla, M. C. Jones
Journal of Investigative Medicine Jan 2006, 54 (1) S100; DOI: 10.2310/6650.2005.X0004.121

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero
Cite This
  • APA
  • Chicago
  • Endnote
  • MLA
Loading
122 EXPANDING THE PHENOTYPE OF MOSAIC TRISOMY 20.
M. J.H. Willis, L. M. Bird, M. Dell'Aquilla, M. C. Jones
Journal of Investigative Medicine Jan 2006, 54 (1) S100; DOI: 10.2310/6650.2005.X0004.121
Download PDF

Share
122 EXPANDING THE PHENOTYPE OF MOSAIC TRISOMY 20.
M. J.H. Willis, L. M. Bird, M. Dell'Aquilla, M. C. Jones
Journal of Investigative Medicine Jan 2006, 54 (1) S100; DOI: 10.2310/6650.2005.X0004.121
del.icio.us logo Digg logo Reddit logo Twitter logo CiteULike logo Facebook logo Google logo Mendeley logo
Respond to this article
  • Tweet Widget
  • Facebook Like
  • Google Plus One
  • Article
  • eLetters
  • Info & Metrics
  • PDF

Related Articles

Cited By...

More in this TOC Section

  • 114 A CASE OF AUTOSOMAL RECESSIVE INFANTILE OSTEOPETROSIS DUE TO MUTATION IN TCIRG1 PRESENTING WITH MULTIPLE CONGENITAL ANOMALIES.
  • 120 DNA HYPOMETHYLATION AND NEURONAL SURVIVAL.
  • 118 INTRACELLULAR GLUTATHIONE LEVELS ARE LOW IN PERIPHERAL BLOOD CELLS IN PATIENTS WITH PRIMARY OR SECONDARY MITOCHONDRIAL DYSFUNCTION.
Show more Western Abstracts: Genetics Concurrent Session 8:30 AM: Friday, February 3, 2006

Similar Articles

 

CONTENT

  • Latest content
  • Current issue
  • Archive
  • Sign up for email alerts
  • RSS

JOURNAL

  • About the journal
  • Editorial board
  • Subscribe
  • Thank you to our reviewers
  • American Federation for Medical Research

AUTHORS

  • Information for authors
  • Submit a paper
  • Track your article
  • Open Access at BMJ

HELP

  • Contact us
  • Reprints
  • Permissions
  • Advertising
  • Feedback form

© 2023 American Federation for Medical Research