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

Interstitial deletion 2q31 leads to q33.

P D Buchanan, R L Rhodes, C E Stevenson

    American Journal of Medical Genetics
    |May 1, 1983
    PubMed
    Summary

    This study details a rare interstitial deletion on chromosome 2, specifically del(2)(q31-q33), in an infant with severe developmental delays and congenital anomalies. Comparing this case with others helps understand this genetic condition.

    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

    Does intentional weight loss improve daytime sleepiness? A systematic review and meta-analysis.

    Obesity reviews : an official journal of the International Association for the Study of Obesity·2017
    Same author

    Further observations upon imperforate anus.

    Annals of surgery·2010
    Same author

    Tenosynovitis of the forearm.

    American journal of surgery·2010
    Same author

    Further observations upon imperforate anus.

    Transactions of the Southern Surgical Association. Southern Surgical Association (U.S.)·2010
    Same author

    Frequency and clinical consequences of extremely high maternal serum PAPP-A levels.

    Prenatal diagnosis·2003
    Same author

    The burden of disease and injury in Australia.

    Bulletin of the World Health Organization·2001

    Area of Science:

    • Genetics
    • Developmental Biology
    • Clinical Medicine

    Background:

    • Genetic disorders can cause significant developmental challenges and congenital anomalies.
    • Chromosome 2 deletions are rare and can lead to complex phenotypes.
    • Understanding specific chromosomal abnormalities is crucial for diagnosis and management.

    Observation:

    • An 8-month-old female presented with severe growth and developmental retardation.
    • The infant exhibited multiple congenital anomalies.
    • Cytogenetic analysis revealed an interstitial deletion on chromosome 2, specifically del(2)(q31-q33).

    Findings:

    • The identified deletion encompasses specific genetic markers on chromosome 2q.
    • Comparison with four previously reported patients with partial del(2q) reveals overlapping and distinct clinical features.
    • This case contributes to the understanding of the phenotypic spectrum associated with 2q deletions.

    Implications:

    • This research aids in characterizing the clinical manifestations of del(2)(q31-q33).
    • Improved understanding can lead to better genetic counseling and diagnostic approaches for similar cases.
    • Further research into the specific genes within the deleted region may elucidate their roles in development.

    Related Experiment Videos