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

Familial Down's syndrome.

C Maximilian, T Pop, D Duca

    Endocrinologie
    |January 1, 1981
    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

    On the benefits of using multivariate analysis in mass spectrometric studies of combustion-generated aerosols.

    Faraday discussions·2019
    Same author

    Multipoint incremental motor unit number estimation as an outcome measure in ALS.

    Neurology·2011
    Same author

    Threshold degenerate wave mixing in dye-doped polymer-dispersed liquid crystals.

    Optics letters·2009
    Same author

    Nature-inspired microfluidic propulsion using magnetic actuation.

    Physical review. E, Statistical, nonlinear, and soft matter physics·2009
    Same author

    IDEA: interface dynamics and energetics algorithm.

    Journal of computational chemistry·2007
    Same author

    Hormonal and metabolic response in elite female gymnasts undergoing strenuous training and supplementation with SUPRO Brand Isolated Soy Protein.

    The Journal of sports medicine and physical fitness·2001
    Same journal

    [Bioethics in Romania. Science is a challenge, bioethics is a response].

    Endocrinologie·1991
    Same journal

    Changes in the iodine content of vegetables following the Chernobyl accident.

    Endocrinologie·1991
    Same journal

    Epidemiological surveillance of iodine deficiency in Romania by urinary iodine determinations in children aged 6-16 years from 30 counties.

    Endocrinologie·1991
    Same journal

    Cardiac disturbances in thyrotoxicosis: diagnosis, incidence, clinical features and management.

    Endocrinologie·1991
    Same journal

    Melatonin involvement in oxidative processes.

    Endocrinologie·1991
    Same journal

    Influence of sex and glucocorticoid hormones on 3H cholesterol uptake in the aortic wall and 3H adrenaline in the brain.

    Endocrinologie·1991
    See all related articles

    A family with multiple children affected by Down syndrome suggests a gene may increase the risk of chromosomal non-disjunction. This genetic factor could also be linked to other developmental issues and cancers.

    Area of Science:

    • Genetics
    • Human Biology
    • Medical Research

    Background:

    • Consanguinity increases the risk of autosomal recessive disorders.
    • Genetic factors can influence chromosomal stability.
    • Down syndrome is a common genetic disorder caused by trisomy 21.

    Observation:

    • An intensely consanguinized family was investigated.
    • Three children were diagnosed with Down syndrome.
    • Other children in the family exhibited multiple malformations and neoplasia.

    Findings:

    • The study suggests a potential gene that promotes chromosomal non-disjunction.
    • This gene may be inherited and increase the risk of Down syndrome.
    • The gene might also be associated with other congenital anomalies and cancers.

    Related Experiment Videos

    Implications:

    • Identifying this gene could lead to new diagnostic tools for genetic counseling.
    • Understanding the mechanism could open avenues for therapeutic interventions.
    • Further research is needed to confirm the gene's role and its broader implications in genetic disorders.