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 21.

L Zergollern, D Muzinić, Z Raic

    Acta Medica Iugoslavica
    |January 1, 1989
    PubMed
    Summary
    This summary is machine-generated.

    A rare ring chromosome 21 anomaly was discovered during prenatal testing. This chromosomal abnormality was found in the unborn child, mother, and her other child, indicating familial inheritance.

    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

    The future of human genetics is the faster continuum of the past.

    Acta medica Croatica : casopis Hravatske akademije medicinskih znanosti·2000
    Same author

    Megalocornea-mental retardation syndrome: report of a new case.

    Journal of medical genetics·1996
    Same author

    Risk estimates for balanced reciprocal translocation carriers--prenatal diagnosis experience.

    Clinical genetics·1996
    Same author

    [The genetics of polycystic ovaries].

    Lijecnicki vjesnik·1996
    Same author

    [Human genetics and ethics].

    Lijecnicki vjesnik·1990
    Same author

    [Cardiac insufficiency--a rare major symptom of hypothyroidism in an infant].

    Lijecnicki vjesnik·1989

    Area of Science:

    • Human genetics
    • Cytogenetics
    • Reproductive medicine

    Background:

    • Prenatal diagnosis aims to identify chromosomal abnormalities early in pregnancy.
    • Genetic counseling is crucial for families with a history of genetic disorders or anomalies.
    • Ring chromosome 21 is a rare chromosomal abnormality with potential health implications.

    Observation:

    • A rare ring chromosome 21 anomaly was identified in the prenatal amniotic fluid of a 38-year-old woman.
    • The woman sought genetic advice due to a history of cystic fibrosis in her first pregnancy.
    • Karyotyping revealed the mother and her 7-year-old child also carried the identical ring chromosome 21 anomaly.

    Findings:

    • The study presents a rare case of ring chromosome 21.
    • The anomaly was inherited, with the mother identified as a carrier.

    Related Experiment Videos

  • The same ring chromosome 21 was present in the mother, her unborn child, and her 7-year-old child.

    • Implications:

    • This case highlights the importance of comprehensive karyotyping in prenatal diagnosis, even when specific concerns like cystic fibrosis are present.
    • Identifying familial carriers of rare chromosomal anomalies like ring chromosome 21 is vital for genetic counseling and reproductive planning.
    • Further research into the clinical manifestations and inheritance patterns of ring chromosome 21 is warranted.