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

[Spondylocostal dysostosis].

G Bonora, D Baronciani, G Gargantini

    La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics
    |November 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

    Management of the mother-infant dyad with suspected or confirmed SARS-CoV-2 infection in a highly epidemic context.

    Journal of neonatal-perinatal medicine·2020
    Same author

    Orientation-dependent Dxz4 contacts shape the 3D structure of the inactive X chromosome.

    Nature communications·2018
    Same author

    'Real-life' report on the management of chronic GvHD in the Gruppo Italiano Trapianto Midollo Osseo (GITMO).

    Bone marrow transplantation·2017
    Same author

    A complete duplication of X chromosome resulting in a tricentric isochromosome originated by centromere repositioning.

    Molecular cytogenetics·2017
    Same author

    Monitoring the hospital management of acute asthma: the Italian Pediatric Network experience.

    European annals of allergy and clinical immunology·2016
    Same author

    Hemopoietic stem cell transplantation in thalassemia: a report from the European Society for Blood and Bone Marrow Transplantation Hemoglobinopathy Registry, 2000-2010.

    Bone marrow transplantation·2016

    Spondylocostal dysostosis prognosis differs between autosomal recessive and dominant forms. This case report also discusses a potential link between this skeletal dysplasia and chromosome 9 pericentric inversion.

    Area of Science:

    • Medical Genetics
    • Skeletal Dysplasias
    • Human Genetics

    Background:

    • Spondylocostal dysostosis (SCD) is a rare skeletal dysplasia characterized by vertebral and rib malformations.
    • Genetic heterogeneity contributes to variable clinical presentations and prognoses in SCD.
    • Understanding genetic underpinnings is crucial for accurate diagnosis and genetic counseling.

    Observation:

    • A clinical case of spondylocostal dysostosis is presented.
    • The patient's specific SCD phenotype and inheritance pattern were documented.
    • Genetic analysis revealed a pericentric inversion of chromosome 9 in association with the dysplasia.

    Findings:

    • The autosomal recessive form of SCD presents a distinct prognosis compared to the autosomal dominant form.

    Related Experiment Videos

  • A potential association between pericentric inversion of chromosome 9 and spondylocostal dysostosis is observed.
  • This finding suggests a possible role for chromosomal abnormalities in SCD etiology or presentation.

    • Implications:

    • Differentiating SCD inheritance patterns is vital for predicting patient outcomes and family planning.
    • The identified chromosomal abnormality warrants further investigation into its role in SCD.
    • This case contributes to the understanding of SCD's complex genetic landscape and diagnostic considerations.