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

Genetic principles.

D Abuelo

    Dermatologic Clinics
    |January 1, 1987
    PubMed
    Summary

    This review covers fundamental genetics, classifying genetic disorders and inheritance patterns. It highlights common clinical diagnosis challenges, particularly unreliable family histories in genetic testing.

    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 novel mutation of the fibrillin-1 gene in a newborn with severe Marfan syndrome.

    Journal of perinatology : official journal of the California Perinatal Association·2008
    Same author

    Familial thoracic aortic aneurysms and dissections: genetic heterogeneity with a major locus mapping to 5q13-14.

    Circulation·2001
    Same author

    XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28.

    American journal of medical genetics·1999
    Same author

    Medical genetics: past, present and future.

    Medicine and health, Rhode Island·1999
    Same author

    Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols.

    Prenatal diagnosis·1998
    Same author

    Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial.

    American journal of medical genetics·1997

    Area of Science:

    • Medical Genetics
    • Clinical Genetics
    • Human Genetics

    Background:

    • Genetics forms the foundation of understanding inherited traits and diseases.
    • Accurate diagnosis of genetic disorders is crucial for patient management and counseling.
    • Clinical genetics relies heavily on detailed patient and family history.

    Purpose of the Study:

    • To outline the core principles of genetics relevant to clinical practice.
    • To categorize various types of genetic disorders.
    • To identify and discuss frequent errors in clinical genetic diagnosis, focusing on family history discrepancies.

    Main Methods:

    • Review of fundamental genetic principles.
    • Classification of genetic disorders based on inheritance patterns.
    • Analysis of common diagnostic challenges in clinical genetics.

    Main Results:

    • Established basic principles of genetics and inheritance.
    • Classified genetic disorders into relevant categories.
    • Identified negative or misleading family history as a significant pitfall in genetic diagnosis.

    Conclusions:

    • Understanding basic genetics and inheritance is essential for accurate diagnosis.
    • Awareness of diagnostic pitfalls, especially concerning family history, is critical for geneticists.
    • Improved methods for obtaining and interpreting family history are needed to enhance clinical genetic diagnosis.

    Related Experiment Videos