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 13 syndrome.

K Fried, M Rosenblatt, G Mundel

    Clinical Genetics
    |March 1, 1975
    PubMed
    Summary
    This summary is machine-generated.

    Ring chromosome 13 syndrome is characterized by microcephaly, intellectual disability, and distinct facial features. This case report supports the definition of a clinically recognizable syndrome associated with ring chromosome 13.

    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

    Plasticity of Dental Cell Types in Development, Regeneration, and Evolution.

    Journal of dental research·2023
    Same author

    Use of intravenous tigecycline in patients with severe Clostridium difficile infection: a retrospective observational cohort study.

    Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases·2016
    Same author

    Three-dimensional Imaging Reveals New Compartments and Structural Adaptations in Odontoblasts.

    Journal of dental research·2015
    Same author

    The curse of a little of that human touch: is CGRP responsible?

    Experimental neurology·2014
    Same author

    Correlation of rectal temperature and peripheral temperature from implantable radio-frequency microchips in Holstein steers challenged with lipopolysaccharide under thermoneutral and high ambient temperatures.

    Journal of animal science·2012
    Same author

    Detection of medullary thyroid microcarcinoma using ultrasound-guided fine needle aspiration cytology.

    Cytopathology : official journal of the British Society for Clinical Cytology·2012
    Same journal

    Genetic Spectrum of Non-PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort.

    Clinical genetics·2026
    Same journal

    Phenotypic Characterization of Five Children With PACS1-NDD: Longitudinal Insights Into Development, Behavior, and Brain.

    Clinical genetics·2026
    Same journal

    A Second Report of a Missense Variant in AMMECR1 Causing Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis: Case Report and Literature Review.

    Clinical genetics·2026
    Same journal

    From Pathogenicity to Mechanism: A Variant Interpretation Framework for Monogenic Epilepsy.

    Clinical genetics·2026
    Same journal

    Biallelic Variants in ATP1A4 Are Associated with Oligoasthenoteratozoospermia and Male Infertility.

    Clinical genetics·2026
    Same journal

    Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy.

    Clinical genetics·2026
    See all related articles

    Area of Science:

    • Genetics
    • Clinical Medicine
    • Pediatrics

    Background:

    • Ring chromosome 13 (r(13)) is a rare chromosomal abnormality.
    • It is associated with a spectrum of developmental abnormalities.
    • Previous reports suggest a recognizable clinical phenotype.

    Purpose of the Study:

    • To describe a case of ring chromosome 13.
    • To contribute to the definition of the r(13) syndrome phenotype.
    • To highlight key clinical features associated with r(13).

    Main Methods:

    • Case report of a female infant with r(13).
    • Clinical examination and developmental assessment.
    • Review of relevant literature.

    Main Results:

    Related Experiment Videos

    • The patient presented with microcephaly, mental retardation, and minor malformations.
    • Facial features included asymmetrical palpebral fissures, epicanthic folds, and a broad nasal bridge.
    • Surgical intervention for premature metopic suture closure was performed.

    Conclusions:

    • This case aligns with previous descriptions of ring chromosome 13 syndrome.
    • The distinct combination of microcephaly, intellectual disability, and specific dysmorphic features supports a defined clinical entity.
    • Further case accumulation is valuable for refining the understanding of r(13) syndrome.