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

Severe limb malformations in 4p deletion.

M Haspeslagh, J P Fryns, P Moerman

    Clinical Genetics
    |April 1, 1984
    PubMed
    Summary
    This summary is machine-generated.

    Severe limb anomalies, including radial aplasia and hypodactylia, were observed in a male newborn with 4p deletion syndrome. This suggests radial aplasia is linked to 4p deletion, not 4q deletion.

    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

    Neurofibromatosis type 1 in childhood: correlation of MRI findings with intelligence.

    Journal of neurology, neurosurgery, and psychiatry·1995
    Same author

    Anophthalmia with cleft palate and micrognathia: a new syndrome or an unusual presentation of Rubinstein-Taybi syndrome?

    Journal of medical genetics·1995
    Same author

    The concurrence of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Langer type of mesomelic dwarfism in the same patient. Evidence of the location of Langer type of mesomelic dwarfism at 3q22.3-q23?

    Clinical genetics·1995
    Same author

    Another look at the causes of the windblown hand.

    Journal of hand surgery (Edinburgh, Scotland)·1995
    Same author

    Microcephaly/lymphedema and terminal deletion of the long arm of chromosome 13.

    American journal of medical genetics·1995
    Same author

    Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS.

    Journal of medical genetics·1995
    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
    • Developmental Biology
    • Clinical Medicine

    Background:

    • 4p deletion syndrome, also known as Wolf-Hirschhorn syndrome, is a rare genetic disorder.
    • Limb anomalies, particularly radial aplasia and hypodactylia, have been observed in various chromosomal abnormalities.
    • Previous literature suggested a link between ring chromosome 4 and radial aplasia, potentially involving 4q deletion.

    Observation:

    • A male newborn diagnosed with 4p deletion syndrome presented with severe limb anomalies.
    • The observed anomalies included bilateral radial aplasia and hypodactylia.
    • This case provides a unique observation in the context of 4p deletion syndrome.

    Findings:

    • The presence of radial aplasia and hypodactylia in this 4p deletion syndrome case challenges previous associations.

    Related Experiment Videos

  • The findings indicate that radial aplasia may be a direct consequence of the 4p deletion.
  • This contradicts the notion that radial aplasia is primarily associated with 4q deletion or ring chromosome 4.

    • Implications:

    • This study suggests a re-evaluation of the genetic underpinnings of radial aplasia in chromosomal disorders.
    • Understanding the specific chromosomal region responsible for limb anomalies can aid in genetic counseling and diagnosis.
    • Further research is warranted to confirm the association between 4p deletion and radial aplasia.