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

The fragile X syndrome

N Lennox1, J Cohen, H Slater

  • 1Department of Social and Preventive Medicine, University of Queensland.

Australian Family Physician
|April 8, 1998
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

Predicting <i>Karenia brevis</i> Induced Respiratory Irritation at Individual Southwest Florida Beaches Using Cell Abundances Plus Wind Direction and Speed.

GeoHealth·2026
Same author

Future Directions of the National Prostate Cancer Audit.

Clinical oncology (Royal College of Radiologists (Great Britain))·2026
Same author

Advanced Practice Nurse Perceptions of Spirituality: A Global Quantitative Perspective in Everyday Life and Practice Settings.

Journal of holistic nursing : official journal of the American Holistic Nurses' Association·2025
Same author

RADICALS-HD: Reflections before the Results are Known.

Clinical oncology (Royal College of Radiologists (Great Britain))·2022
Same author

Infographic: Long-term core outcomes in cauda equina syndrome.

The bone & joint journal·2021
Same author

OVPSYCH2: A randomized controlled trial of psychological support versus standard of care following chemotherapy for ovarian cancer.

Gynecologic oncology·2021

Fragile X syndrome (FXS), an inherited developmental disability, is now easily testable via DNA analysis. Early detection and intervention significantly benefit affected individuals and families.

Area of Science:

  • Genetics
  • Developmental Biology
  • Medical Diagnostics

Background:

  • Fragile X syndrome (FXS) is the leading inherited cause of developmental disability.
  • Advances in DNA analysis offer accessible testing for FXS.
  • Clinical presentation of FXS exhibits a wide spectrum of severity in both sexes.

Purpose of the Study:

  • To highlight the significance of Fragile X syndrome as a common inherited developmental disability.
  • To emphasize the availability and benefits of current diagnostic and management strategies for FXS.
  • To underscore the role of healthcare professionals, including general practitioners, in FXS detection and care.

Main Methods:

  • DNA analysis techniques for identifying Fragile X syndrome.
  • Assessment of clinical severity in affected individuals.

Related Experiment Videos

  • Review of available treatment and interventional strategies.
  • Role of genetic counseling in family decision-making.

    • Main Results:

    • FXS is a prevalent cause of inherited developmental disability.
    • Simple blood tests using DNA analysis are widely available for FXS detection.
    • A broad range of clinical severity is observed in individuals with FXS.
    • Specific interventions and treatments provide substantial benefits.

    Conclusions:

    • Early identification and management of Fragile X syndrome are crucial.
    • Genetic counseling empowers families with information for informed decisions.
    • General practitioners are key in the detection and ongoing management of FXS.
    • Intervention strategies significantly improve outcomes for individuals with FXS.