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 associated with multiple congenital malformations.

G Simoni, F Rossella, L Dalprà

    Human Genetics
    |October 1, 1979
    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

    Translation and cultural adaptation of the Italian version of the Paediatric Palliative Screening Scale.

    European journal of pediatrics·2024
    Same author

    Editorial: focus on waste-heat harvesting via thermoelectric conversion: materials, devices and systems for sustainable energy technologies.

    Nanotechnology·2023
    Same author

    Genetic analysis of osteogenesis imperfecta in a large Brazilian cohort.

    Bone·2023
    Same author

    Effectiveness of standard cervical physiotherapy plus diaphragm manual therapy on pain in patients with chronic neck pain: A randomized controlled trial.

    Journal of bodywork and movement therapies·2021
    Same author

    Publisher Correction: Fe-functionalized paramagnetic sporopollenin from pollen grains: one-pot synthesis using ionic liquids.

    Scientific reports·2020
    Same author

    Fe-functionalized paramagnetic sporopollenin from pollen grains: one-pot synthesis using ionic liquids.

    Scientific reports·2020

    A rare ring chromosome 10 (r(10)) was identified in an infant with severe developmental delays and multiple birth defects. This finding aids in understanding the genetic basis of complex congenital anomalies.

    Area of Science:

    • Cytogenetics
    • Human Genetics
    • Developmental Biology

    Background:

    • Karyotyping is a genetic analysis that identifies chromosomal abnormalities.
    • Ring chromosomes are rare structural variations with potential clinical significance.
    • Understanding the impact of specific chromosomal changes is crucial for genetic counseling.

    Observation:

    • A chromosomal analysis of an 8-month-old male revealed a 46,XY,r(10) karyotype in both lymphocyte and skin fibroblast cultures.
    • The patient presented with multiple congenital malformations and severe mental retardation.
    • The identified ring chromosome 10 (r(10)) was characterized using banding techniques.

    Findings:

    • The presence of a ring chromosome 10 (r(10)) is associated with a distinct phenotype.

    Related Experiment Videos

  • Clinical features observed in this case were compared with previously reported cases of r(10).
  • This case highlights the phenotypic variability and severity associated with r(10).

    • Implications:

    • This study contributes to the understanding of genotype-phenotype correlations in ring chromosome 10 disorders.
    • Accurate karyotyping is essential for diagnosing genetic syndromes and providing appropriate genetic counseling.
    • Further research into the mechanisms underlying ring chromosome formation and its developmental consequences is warranted.