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

Down syndrome due to partial trisomy 21q.

J Cervenka, R J Gorlin, G R Djavadi

    Clinical Genetics
    |February 1, 1977
    PubMed
    Summary

    This study reports a patient with Down syndrome, caused by partial trisomy of chromosome 21. The findings suggest the Down syndrome phenotype results from trisomy of the distal band q22 on chromosome 21.

    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 effects of surface heterogeneity on erosion and sedimentation and their implications for of soil properties at postmining sites.

    The Science of the total environment·2024
    Same author

    Surface charge effects in protein adsorption on nanodiamonds.

    Nanoscale·2015
    Same author

    Ultra-high-density 3D DNA arrays within nanoporous biocompatible membranes for single-molecule-level detection and purification of circulating nucleic acids.

    Nanoscale·2015
    Same author

    Antibody response to chlamydiae in children with asthma and respiratory illness.

    Folia microbiologica·2011
    Same author

    The structure and growth mechanism of Si nanoneedles prepared by plasma-enhanced chemical vapor deposition.

    Nanotechnology·2010
    Same author

    Fullerene monolayer formation by spray coating.

    Nanotechnology·2010

    Area of Science:

    • Genetics
    • Human Biology
    • Medical Science

    Background:

    • Down syndrome is a genetic disorder typically caused by trisomy of all or part of chromosome 21.
    • Understanding the specific chromosomal regions responsible for the Down syndrome phenotype is crucial for genetic counseling and research.

    Observation:

    • A case report details a patient exhibiting a typical Down syndrome phenotype.
    • The patient's condition was attributed to partial trisomy of chromosome 21.

    Findings:

    • Analysis of the current case and existing literature suggests a specific chromosomal region is responsible for the Down syndrome phenotype.
    • Trisomy of the distal portion of band q22 on chromosome 21 is identified as the likely cause of the Down syndrome phenotype.

    Implications:

    • These findings refine the understanding of genotype-phenotype correlations in Down syndrome.
    • Identifying the critical region may aid in more precise genetic diagnostics and risk assessment for Down syndrome.

    Related Experiment Videos