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

Preaxial polydactyly type 4: variability in a large kindred.

J F Reynolds, A Sommer, T E Kelly

    Clinical Genetics
    |March 1, 1984
    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

    A case of cutis verticis gyrata, induced by misuse of anabolic substances?

    Clinical and experimental dermatology·2005
    Same author

    Rh/IGF-I/rhIGFBP-3 administration to patients with type 2 diabetes mellitus reduces insulin requirements while also lowering fasting glucose.

    Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society·2005
    Same author

    Steroid hormone receptors as targets for the therapy of breast and prostate cancer--recent advances, mechanisms of resistance, and new approaches.

    The Journal of steroid biochemistry and molecular biology·2005
    Same author

    [Extensive, painful erosion of the vulva. Extramammary Paget disease].

    Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete·2005
    Same author

    Shift of syndecan-1 expression from epithelial to stromal cells during progression of solid tumours.

    European journal of cancer (Oxford, England : 1990)·2004
    Same author

    In vivo models for endocrine-dependent breast carcinomas: special considerations of clinical relevance.

    European journal of cancer (Oxford, England : 1990)·2004

    This study reports on a five-generation family with type 4 preaxial polydactyly, a condition affecting hand and foot development. The trait showed complete penetrance and variable expression, with more severe deformities in the feet.

    Area of Science:

    • Genetics
    • Developmental Biology
    • Orthopedics

    Background:

    • Preaxial polydactyly is a congenital limb malformation characterized by an extra digit on the radial (thumb) or tibial (big toe) side.
    • Type 4 preaxial polydactyly specifically involves duplication of the thumb and/or big toe.

    Observation:

    • A five-generation family exhibiting type 4 preaxial polydactyly was studied.
    • Twenty-one individuals within the family were affected by the condition.
    • Clinical observations revealed variability in the expression of the trait among affected individuals.

    Findings:

    • The inheritance pattern demonstrated complete penetrance, meaning all individuals with the genetic predisposition expressed the trait.
    • There was no apparent influence of sex on the expression or severity of the condition.

    Related Experiment Videos

  • Limb deformities were consistently more severe in the feet compared to the hands.
  • A subset of affected individuals presented with only anteroposterior thumb flattening as the sole manifestation in their hands.

    • Implications:

    • Understanding the genetic basis and phenotypic variability of type 4 preaxial polydactyly can aid in genetic counseling and family planning.
    • Further research into the specific genetic factors and developmental pathways involved may reveal therapeutic targets.
    • Detailed documentation of such familial cases contributes to the broader knowledge base of congenital limb anomalies.