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

Translocations in Prader-Willi syndrome.

J Charrow, N Balkin, M M Cohen

    Clinical Genetics
    |April 1, 1983
    PubMed
    Summary

    This study reports the first case of Prader-Willi Syndrome (PWS) linked to a new translocation between chromosomes 11 and 15. This genetic anomaly results in a deletion within the critical 15q11-q12 region, supporting the deletion hypothesis for PWS.

    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

    Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders.

    Molecular genetics and metabolism·2016
    Same author

    Dental abnormalities in Schimke immuno-osseous dysplasia.

    Journal of dental research·2012
    Same author

    Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry.

    Journal of inherited metabolic disease·2007
    Same author

    The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease.

    Clinical genetics·2007
    Same author

    Knowledge and attitudes toward a free education and Ashkenazi Jewish carrier testing program.

    Journal of genetic counseling·2006
    Same author

    Late-onset optic pathway tumors in children with neurofibromatosis 1.

    Neurology·2004

    Area of Science:

    • Genetics
    • Molecular Biology
    • Developmental Biology

    Background:

    • Prader-Willi Syndrome (PWS) is a complex genetic disorder.
    • PWS is often linked to chromosomal abnormalities in the 15q11-q12 region.
    • Understanding the genetic basis of PWS is crucial for diagnosis and management.

    Observation:

    • A novel case of PWS associated with a de novo translocation involving chromosomes 11 and 15 is presented.
    • The translocation breakpoints were precisely identified at 11q25 and 15q11-q12.
    • This genetic event leads to a deletion of the 15pter region, encompassing the 15q11-q12 locus.

    Findings:

    • The identified translocation, denoted as 45, XX,t(11;15)(q25;q11-12), is the first reported instance in PWS.
    • The deletion of the 15q11-q12 region resulting from this translocation is a key finding.
    • This case provides further evidence for the critical role of the 15q11-q12 region in PWS pathogenesis.

    Implications:

    • This finding reinforces the 'deletion hypothesis' as a primary mechanism in Prader-Willi Syndrome.
    • The report expands the known spectrum of chromosomal anomalies associated with PWS.
    • Further research into PWS genetics can improve diagnostic accuracy and therapeutic strategies.

    Related Experiment Videos