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

Autosomal dominant flat umbilicus.

Alexander K C Leung1, D Ross McLeod

  • 1Department of Pediatrics, the University of Calgary, Alberta Children's Hospital, Calgary, Alberta T2M 0H5, Canada. aleung@ucalgary.ca

American Journal of Medical Genetics. Part A
|November 4, 2004
PubMed
Summary
This summary is machine-generated.

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

Expression and Correlation Analysis of Neuropeptide Family Members in the Peripheral Blood of Patients with COVID-19.

Current pediatric reviews·2026
Same author

A Narrative Review of Dietary Interventions and Supplementation for the Prevention and Treatment of Atopic Dermatitis.

Current pediatric reviews·2026
Same author

Correction: The future of severe acute respiratory syndrome-coronavirus and coronavirus disease.

World journal of pediatrics : WJP·2026
Same author

Infectious associations in childhood Kawasaki Disease.

Current pediatric reviews·2026
Same author

The EAT Algorithm: A Visual Tool to De-escalate Food Avoidance Anxiety in Parents.

Current pediatric reviews·2026
Same author

The future of severe acute respiratory syndrome-cornavirus and coronavirus disease.

World journal of pediatrics : WJP·2026
Same journal

Biallelic Variants in MIMS1 Produce a Form of Spondyloepimetaphyseal Dysplasia With Tracheal Stenosis and Ectodermal Dysplasia (SEMDTSED).

American journal of medical genetics. Part A·2026
Same journal

How does Léri-Weill Dyschondrosteosis Affect Adults' Health-Related Quality of Life? - A Norwegian Cross-Sectional Study Exploring the Physical and Mental Burden.

American journal of medical genetics. Part A·2026
Same journal

Re-Identification of the Panamanian Guna/Kuna/Cuna OCA2 Founder Association Through Two American-Born Siblings.

American journal of medical genetics. Part A·2026
Same journal

Biallelic Variant in HAPLN1 is Associated With Skeletal Dysplasia With or Without Congenital Heart Disease.

American journal of medical genetics. Part A·2026
Same journal

MYH11-Related Hereditary Type 2 Visceral Myopathy in a Large Kindred: Diagnostic Odyssey With Milder Clinical Manifestations.

American journal of medical genetics. Part A·2026
Same journal

Positron Emission Tomography (PET) in Phenylketonuria: A Systematic Review of Brain Metabolism Beyond Phenylalanine.

American journal of medical genetics. Part A·2026
See all related articles

A Chinese family shows a rare, isolated flat umbilicus condition inherited in an autosomal dominant pattern across three generations. This genetic trait, observed in multiple family members, suggests a novel inheritance pattern for this umbilical anomaly.

Area of Science:

  • Genetics
  • Developmental Biology
  • Human Anatomy

Background:

  • The umbilicus, or navel, is a prominent feature of human anatomy.
  • Congenital umbilical anomalies are relatively uncommon.
  • Understanding the genetic basis of anatomical variations is crucial for developmental biology.

Observation:

  • A Chinese family presented with five affected individuals across three generations exhibiting a flat umbilicus.
  • The condition demonstrated vertical and male-to-male transmission, suggesting autosomal dominant inheritance.
  • One individual, the proband, also had Tetralogy of Fallot, while others presented with isolated flat umbilicus.

Findings:

  • The study identified a potential autosomal dominant inheritance pattern for an isolated flat umbilicus.

Related Experiment Videos

  • This mode of inheritance for isolated flat umbilicus has not been previously documented in scientific literature.
  • The proband's co-occurrence of Tetralogy of Fallot highlights potential genetic heterogeneity or pleiotropy.

    • Implications:

    • This finding expands the known spectrum of umbilical anomalies and their genetic underpinnings.
    • Further research may elucidate the specific gene(s) responsible for autosomal dominant isolated flat umbilicus.
    • Understanding such genetic conditions can aid in genetic counseling and diagnostic approaches for similar cases.