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

[Wolf-Hirschhorn syndrome].

R Vivarelli, R Scarinci, G Conti

    La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics
    |May 1, 1985
    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

    Measurement of [Formula: see text] production with a veto on additional central jet activity in <i>pp</i> collisions at [Formula: see text] TeV using the ATLAS detector.

    The European physical journal. C, Particles and fields·2015
    Same author

    Measurement of <i>τ</i> polarization in <i>W</i>→<i>τν</i> decays with the ATLAS detector in <i>pp</i> collisions at [Formula: see text].

    The European physical journal. C, Particles and fields·2015
    Same author

    A search for [Formula: see text] resonances with the ATLAS detector in 2.05 fb<sup>-1</sup> of proton-proton collisions at [Formula: see text].

    The European physical journal. C, Particles and fields·2015
    Same author

    Measurement of jet shapes in top-quark pair events at [Formula: see text] using the ATLAS detector.

    The European physical journal. C, Particles and fields·2015
    Same author

    Jet energy resolution in proton-proton collisions at [Formula: see text] recorded in 2010 with the ATLAS detector.

    The European physical journal. C, Particles and fields·2015
    Same author

    Measurement of the [Formula: see text] production cross section in the tau + jets channel using the ATLAS detector.

    The European physical journal. C, Particles and fields·2015
    Same journal

    Beyond lead points: transient small-bowel intussusception in adolescents without structural lesions.

    La Pediatria medica e chirurgica : Medical and surgical pediatrics·2026
    Same journal

    From outreach to ownership: building sustainable paediatric surgical capacity at a secondary hospital in rural Tanzania. A ten-year experience.

    La Pediatria medica e chirurgica : Medical and surgical pediatrics·2026
    Same journal

    Advances in pediatrics: new technologies in clinical practice.

    La Pediatria medica e chirurgica : Medical and surgical pediatrics·2026
    Same journal

    Primary intestinal lymphangiectasia presenting with intussusception in a child.

    La Pediatria medica e chirurgica : Medical and surgical pediatrics·2026
    Same journal

    Prevention and awareness of pool suction-drain injuries in children: two case reports.

    La Pediatria medica e chirurgica : Medical and surgical pediatrics·2026
    Same journal

    Hybrid one-stage Snodgrass-Duckett urethroplasty for severe hypospadias. A five-year institutional experience.

    La Pediatria medica e chirurgica : Medical and surgical pediatrics·2026
    See all related articles

    Wolf-Hirschhorn syndrome, a rare genetic disorder caused by chromosome 4p deletion, was diagnosed in two children. Accurate phenotypic assessment and cytogenetic examination confirmed the chromosomal abnormality.

    Area of Science:

    • Genetics
    • Pediatrics
    • Medical Diagnostics

    Background:

    • Wolf-Hirschhorn syndrome is a rare genetic disorder.
    • It results from a partial deletion on the short arm of chromosome 4 (4p-).
    • Diagnosis often relies on clinical presentation and genetic testing.

    Observation:

    • Two pediatric cases presenting with features suggestive of Wolf-Hirschhorn syndrome were evaluated.
    • Phenotypic assessment was crucial in identifying potential cases.
    • Cytogenetic examination was performed to confirm the diagnosis.

    Findings:

    • Both children exhibited a phenotype consistent with Wolf-Hirschhorn syndrome.
    • Cytogenetic analysis revealed the characteristic chromosomal aberration, specifically a partial deletion of the short arm of chromosome 4.

    Related Experiment Videos

  • This confirmed the diagnosis in both pediatric patients.

    • Implications:

    • Early and accurate diagnosis of Wolf-Hirschhorn syndrome is vital for timely intervention.
    • Phenotypic analysis combined with cytogenetics provides a reliable diagnostic pathway.
    • Understanding the genetic basis aids in genetic counseling and management strategies for affected families.