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

Ring chromosome 4

A McDermott, M A Voyce, D Romain

    Journal of Medical Genetics
    |June 1, 1977
    PubMed
    Summary

    This study describes a boy with a ring chromosome 4, experiencing intellectual and physical disabilities. Dynamic mosaicism, not telomere loss, is suggested as the cause of his clinical features.

    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

    The COVID-19 pandemic has negatively affected health behaviours in those with pre- heart failure.

    Irish medical journal·2023
    Same author

    Association Between Clinical Frailty Scale Score and Length of Stay in a Complex Discharge Unit.

    Irish medical journal·2023
    Same author

    Energetic Electron Precipitation Driven by Electromagnetic Ion Cyclotron Waves from ELFIN's Low Altitude Perspective.

    Space science reviews·2023
    Same author

    Thermal Inactivation of Listeria monocytogenes in Crab Meat.

    Journal of food protection·2018
    Same author

    Genetic and nongenetic factors associated with milk color in dairy cows.

    Journal of dairy science·2017
    Same author

    Cow and environmental factors associated with protein fractions and free amino acids predicted using mid-infrared spectroscopy in bovine milk.

    Journal of dairy science·2017

    Area of Science:

    • Human Genetics
    • Cytogenetics
    • Clinical Genetics

    Background:

    • Ring chromosome 4 (r(4)) is a rare chromosomal abnormality.
    • Associated clinical features often include developmental delay and intellectual disability.

    Observation:

    • A case of a mentally and physically retarded boy with a 46,XY,ring(4)(p16q35) karyotype is presented.
    • Chromosome banding revealed minimal deletion, likely only telomeric material, from the ring chromosome 4.
    • Aberrations included dicentric ring formation and aneuploidy, leading to dynamic mosaicism.

    Findings:

    • The patient exhibited clinical features consistent with r(4).
    • The observed mosaicism was dynamic, characterized by variations in chromosome number.
    • Minimal loss of telomeric material from the ring chromosome 4 was detected.

    Implications:

    • Clinical features are likely due to diploid/monosomy 4/polysomy 4 mosaicism rather than telomere deficiency.
    • Understanding dynamic mosaicism in ring chromosomes is crucial for predicting clinical outcomes.
    • This case highlights the complex genotype-phenotype correlations in chromosomal abnormalities.

    Related Experiment Videos