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

Trisomy 22 with 'cat eye' anomaly.

J Cervenka, C A Hansen, R A Franciosi

    Journal of Medical Genetics
    |August 1, 1977
    PubMed
    Summary
    This summary is machine-generated.

    A rare case of full trisomy 22 in a 10-month-old girl revealed a unique iris coloboma. This finding challenges the typical association of this

    Related Experiment Videos

    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 effects of surface heterogeneity on erosion and sedimentation and their implications for of soil properties at postmining sites.

    The Science of the total environment·2024
    Same author

    Surface charge effects in protein adsorption on nanodiamonds.

    Nanoscale·2015
    Same author

    Ultra-high-density 3D DNA arrays within nanoporous biocompatible membranes for single-molecule-level detection and purification of circulating nucleic acids.

    Nanoscale·2015
    Same author

    Antibody response to chlamydiae in children with asthma and respiratory illness.

    Folia microbiologica·2011
    Same author

    Gβγ-Mediated signaling in the heart: Implications of β and γ subunit heterogeneity.

    Trends in cardiovascular medicine·2011
    Same author

    The structure and growth mechanism of Si nanoneedles prepared by plasma-enhanced chemical vapor deposition.

    Nanotechnology·2010
    Same journal

    Longest surviving patient with a homozygous splice-altering <i>EGFR</i> pathogenic variant presenting with skin autoinflammation and a Bartter-like salt-losing tubulopathy.

    Journal of medical genetics·2026
    Same journal

    Functional characterisation and pathological significance of variants of <i>MEF2C</i> promoter in tetralogy of Fallot.

    Journal of medical genetics·2026
    Same journal

    Identification of biallelic loss-of-function <i>PREP</i> variants in three individuals with syndromic intellectual disability.

    Journal of medical genetics·2026
    Same journal

    Inherited retinal disease genes with dual inheritance patterns: insights from the IRD-PT registry.

    Journal of medical genetics·2026
    Same journal

    Interpreting <i>TP53</i> variants: somatic mosaicism and <i>ERCC6L2</i>-driven clonal evolution.

    Journal of medical genetics·2026
    Same journal

    Review of estimates of birth incidence and population prevalence over time and between countries of the rare neurodevelopmental condition Prader-Willi syndrome.

    Journal of medical genetics·2026
    See all related articles

    Area of Science:

    • Genetics
    • Medical Genetics
    • Clinical Dysmorphology

    Background:

    • Trisomy 22, a chromosomal abnormality, is typically associated with a range of developmental issues.
    • The 'cat eye' anomaly, characterized by iris coloboma, is usually linked to partial trisomy 22.
    • Previous literature documents 18 cases of full trisomy 22, none presenting with iris coloboma.