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 10 and its clinical features.

H Nakai, M Adachi, N Katsushima

    Journal of Medical Genetics
    |April 1, 1983
    PubMed
    Summary

    Ring chromosome 10 (r(10)) is a rare chromosomal abnormality associated with significant developmental challenges. This case study reviews r(10) patients, highlighting common features like growth and mental retardation.

    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

    Electrocatalytic synthesis of ammonia by surface proton hopping.

    Chemical science·2017
    Same author

    Next-generation sequencing for patients with non-obstructive azoospermia: implications for significant roles of monogenic/oligogenic mutations.

    Andrology·2017
    Same author

    Engineering a gene silencing viral construct that targets the cat hypothalamus to induce permanent sterility: An update.

    Reproduction in domestic animals = Zuchthygiene·2016
    Same author

    Determinant factors of postoperative recurrence of endometriosis: difference between endometrioma and pain.

    European journal of obstetrics, gynecology, and reproductive biology·2016
    Same author

    Factor IX inhibition and epitope localization of factor IX inhibitor antibodies in haemophilia B patients with anaphylactoid reactions.

    Haemophilia : the official journal of the World Federation of Hemophilia·2016
    Same author

    A tale of two sisters: identical IL36RN mutations and discordant phenotypes.

    The British journal of dermatology·2015

    Area of Science:

    • Genetics
    • Clinical Genetics
    • Human Genetics

    Background:

    • Ring chromosome 10 (r(10)) is a rare chromosomal abnormality.
    • The genetic basis and phenotypic spectrum of r(10) require further delineation.

    Observation:

    • A 2-year-old male with mental and growth retardation presented with a 46,XY,r(10)(p15q26) karyotype.
    • Review of five previously reported r(10) cases alongside the current case.

    Findings:

    • Common features in r(10) syndrome include mental and growth retardation, low birth weight, microcephaly, facial dysmorphisms (stubby nose, hypertelorism, strabismus), wide-set nipples, single transverse palmar creases, undescended testes, and hypoplastic scrotum.
    • Congenital heart disease was noted in some r(10) cases.

    Implications:

    • This review aids in defining the clinical syndrome associated with ring chromosome 10.
    • Improved understanding of r(10) can facilitate earlier diagnosis and genetic counseling.

    Related Experiment Videos