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

Duplication 14(q31----qter).

D M Carr, K Jones-Quartey, M V Vartanian

    Journal of Medical Genetics
    |June 1, 1987
    PubMed
    Summary

    This study presents a case of chromosome 14q duplication syndrome, identifying distinctive clinical features. Comparing 14 cases helps define a recognizable syndrome for improved diagnosis of developmental delays and congenital anomalies.

    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

    Biological effects and mechanism of action of farnesyl transferase inhibitors.

    Chemical research in toxicology·2000
    Same author

    Serving physician information needs: a model for the transition to an electronic medical record.

    Journal of healthcare information management : JHIM·2000
    Same author

    Coexisting carcinoid tumors in familial adenomatous polyposis-associated upper intestinal adenomas.

    The American journal of gastroenterology·1999
    Same author

    Inhibitors of farnesyl protein transferase. 4-Amido, 4-carbamoyl, and 4-carboxamido derivatives of 1-(8-chloro-6,11-dihydro-5H-benzo[5,6]- cyclohepta[1,2-b]pyridin-11-yl)piperazine and 1-(3-bromo-8-chloro-6,11- dihydro-5H-benzo[5,6]cyclohepta[1,2-b]pyridin-11-yl)piperazine.

    Journal of medicinal chemistry·1998
    Same author

    Surgical management of primary motor disorders of the esophagus.

    American journal of surgery·1984
    Same author

    Specific neurotoxin lesions of median raphe serotonergic neurons disrupt maternal behavior in the lactating rat.

    Endocrinology·1983

    Area of Science:

    • Genetics
    • Developmental Biology
    • Clinical Medicine

    Background:

    • Partial duplication of the distal long arm of chromosome 14 (14q31-qter) is a rare chromosomal abnormality.
    • This condition can lead to significant developmental delays and multiple congenital anomalies.
    • Previous literature describes variable clinical presentations, making diagnosis challenging.

    Observation:

    • A case report of a 29-year-old Black female with delayed development and multiple congenital anomalies is presented.
    • The patient exhibits a duplication of chromosome 14, specifically 14q31-qter.
    • Clinical features associated with this specific chromosomal duplication are noted.

    Findings:

    • While clinical features of distal 14q duplication are variable, certain characteristics appear distinctive.
    • Comparison of 14 reported cases aims to delineate a recognizable syndrome.
    • Key phenotypic features associated with 14q31-qter duplication are being identified.

    Implications:

    • Defining a recognizable syndrome aids in earlier and more accurate diagnosis of 14q duplication.
    • Improved understanding of this chromosomal abnormality can guide genetic counseling and family planning.
    • Further research into genotype-phenotype correlations is warranted for this rare condition.

    Related Experiment Videos