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

Paternal UPD14 is responsible for a distinctive malformation complex.

Kenji Kurosawa1, Hiroyuki Sasaki, Yoshiaki Sato

  • 1Kanagawa Children's Medical Center, Yokohama, Japan.

American Journal of Medical Genetics
|July 13, 2002
PubMed
Summary

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

A Case Report of Cervical Digit: Heterogeneous Condition.

Journal of orthopaedic case reports·2026
Same author

Imaging Spectrum of Childhood Interstitial Lung Diseases: Focus on Disorders Not Specific to Infancy.

Radiographics : a review publication of the Radiological Society of North America, Inc·2026
Same author

Pediatric Rheumatic Disorders Revisited: Integrating Imaging and Pathophysiologic Insights across the Autoinflammatory-Autoimmune Continuum.

Radiographics : a review publication of the Radiological Society of North America, Inc·2026
Same author

Imaging findings in pediatric interferonopathies.

Pediatric radiology·2026
Same author

Genetic Skeletal Disorders with Defects in Glycosaminoglycan Biosynthesis.

Molecular syndromology·2026
Same author

A Neonatal Manifestation of Geleophysic Dysplasia Type 1: A Case Report Highlighting Phenotypic Overlap With Al-Gazali Skeletal Dysplasia.

Congenital anomalies·2026

Paternal uniparental disomy of chromosome 14q (patUPD14) can cause a distinct syndrome with abdominal muscular defects, skeletal anomalies, and characteristic facies. Imprinted genes DLK1 and GTL2 may contribute to this condition.

Area of Science:

  • Genetics
  • Human Molecular Genetics
  • Developmental Biology

Background:

  • Paternal uniparental disomy of chromosome 14q (patUPD14) is a rare chromosomal abnormality.
  • Understanding the genetic basis of patUPD14 is crucial for diagnosing and managing associated phenotypes.

Purpose of the Study:

  • To describe the clinical manifestations of individuals with patUPD14.
  • To investigate the potential role of imprinted genes in the patUPD14 syndrome.

Main Methods:

  • Clinical case reporting of three patients with patUPD14.
  • Review of previously reported cases with patUPD14.
  • Comparison with a mouse model of uniparental disomy.

Main Results:

Related Experiment Videos

  • Three patients (one boy, two girls) presented with patUPD14.
  • Hallmarks of the syndrome include abdominal muscular defects, skeletal anomalies, and characteristic facies.
  • The phenotype aligns with mouse models and suggests involvement of imprinted genes DLK1 and GTL2 on chromosome 14q32.

    • Conclusions:

    • patUPD14 can lead to a distinct syndrome with recognizable features.
    • Imprinted genes DLK1 and GTL2 are potential contributors to the patUPD14 malformation complex.
    • Further research into imprinting mechanisms is warranted for this condition.