Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Partial trisomy 20p: familial occurrence.

S Oppenheimer1, P Dignan, S Soukup

  • 1Cincinnati Center Developmental Disabilities, Cincinnati Children's Hospital, Ohio 45229, USA.

American Journal of Medical Genetics
|February 24, 2001
PubMed
Summary

This study compares partial trisomy 20p syndrome in an uncle and niece to 32 prior cases. It highlights the genetic condition

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

[Conclusions and recommendations of a WHO expert consultation meeting on iron supplementation for infants and young children in malaria endemic areas].

Medecine tropicale : revue du Corps de sante colonial·2008
Same author

Prenatal diagnosis of trisomy 20 by chorionic villus sampling (CVS): a case report with long-term outcome.

Prenatal diagnosis·2002
Same author

Fast trains, slow boats, and the ancestry of the Polynesian islanders.

Science progress·2001
Same author

Forebrain lateralization and the cardiovascular correlates of epilepsy.

Brain : a journal of neurology·2001
Same author

Forebrain lateralization of cardiovascular function: physiology and clinical correlates.

Annals of neurology·2001
Same author

A predominantly indigenous paternal heritage for the Austronesian-speaking peoples of insular Southeast Asia and Oceania.

American journal of human genetics·2001

Area of Science:

  • Genetics
  • Human Biology
  • Medical Research

Background:

  • Partial trisomy 20p syndrome is a rare chromosomal disorder.
  • Understanding its inheritance patterns and clinical manifestations is crucial for genetic counseling.
  • Previous case studies provide a foundation for analyzing new instances of this condition.

Observation:

  • A familial occurrence of partial trisomy 20p syndrome was observed in an uncle and niece.
  • This observation suggests a potential inherited component or recurrence risk within families.
  • Detailed clinical and genetic data were collected for the affected individuals.

Findings:

  • The current uncle-niece cases were compared with 32 previously documented instances of partial trisomy 20p.
  • Analysis focused on phenotypic variability and genotypic correlations.
  • The study aims to identify commonalities and differences in presentation and genetic makeup.

Implications:

  • Findings may refine diagnostic criteria and improve understanding of partial trisomy 20p syndrome.
  • This research can aid in genetic counseling for families with a history of this condition.
  • Further research into the specific genetic mechanisms underlying familial partial trisomy 20p is warranted.

Related Experiment Videos