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

Atypical Down syndrome and partial trisomy 21.

E C Jenkins, C J Duncan, C E Wright

    Clinical Genetics
    |August 1, 1983
    PubMed
    Summary

    This study examines an atypical Down Syndrome (DS) case with partial trisomy 21. Findings suggest a specific chromosomal rearrangement, aiding in mapping DS-related genes and phenotypes.

    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

    Ophthalmology and Otology.

    The Southern medical record·2022
    Same author

    Genetic differentiation in spite of high gene flow in the dominant rainforest tree of southeastern Australia, Nothofagus cunninghamii.

    Heredity·2015
    Same author

    Reproductive strategies and sex-biased investment : Suggested roles of breast-feeding and wet-nursing.

    Human nature (Hawthorne, N.Y.)·2015
    Same author

    Malnutrition, pregnancy, and infant mortality: a biometric model.

    The Journal of interdisciplinary history·2011
    Same author

    Generative processes in character classification: Evidence for a probe encoding set.

    Memory & cognition·2011
    Same author

    Cough hypersensitivity syndrome: a distinct clinical entity.

    Lung·2011

    Area of Science:

    • Genetics
    • Molecular Biology
    • Clinical Medicine

    Background:

    • Down Syndrome (DS) is typically caused by trisomy 21.
    • Atypical presentations of DS can occur due to partial trisomies or mosaicism.
    • Understanding these variations is crucial for accurate diagnosis and genetic counseling.

    Observation:

    • A case study of a patient with "atypical" Down Syndrome was investigated.
    • The patient presented with an incomplete set of classical DS clinical features.
    • Genetic analysis revealed a de novo partial trisomy 21.

    Findings:

    • Phenotypic, chromosome banding, and superoxide dismutase (SOD) gene dosage studies were performed.
    • The suggested karyotype is 46,XX,-12,+t(12pter to 12qter::21q21 to 21q22.?2).

    Related Experiment Videos

  • This indicates a translocation involving chromosome 12 and partial duplication of chromosome 21.

    • Implications:

    • Further study of atypical DS cases is essential for precise gene mapping.
    • Identifying specific chromosomal bands responsible for the DS phenotype can be refined.
    • This research contributes to a better understanding of genotype-phenotype correlations in Down Syndrome.