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.

W T Brown1

  • 1Department of Pediatrics, North Shore University Hospital, Manhasset, New York.

Neurologic Clinics
|February 1, 1989
PubMed
Summary

Fragile X syndrome, the most common inherited intellectual disability, is caused by a specific marker on the X chromosome. Early detection methods enable population screening and prenatal diagnosis of this genetic disorder.

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

Strengthening lung cancer screening in Hong Kong: policy, innovation, and collaborative approaches for early detection and improved outcomes.

Hong Kong medical journal = Xianggang yi xue za zhi·2025
Same author

Genome-wide differential expression of synaptic long noncoding RNAs in autism spectrum disorder.

Translational psychiatry·2015
Same author

Molecular carrier testing for the fragile X syndrome: Issues for genetic counselors.

Journal of genetic counseling·2013
Same author

Alterations in mitochondrial DNA copy number and the activities of electron transport chain complexes and pyruvate dehydrogenase in the frontal cortex from subjects with autism.

Translational psychiatry·2013
Same author

Substrate Reduction Therapy in Four Patients with Milder CLN1 Mutations and Juvenile-Onset Batten Disease Using Cysteamine Bitartrate.

JIMD reports·2013
Same author

Quantitative 3D evaluation of step ascent and descent in individuals with Down syndrome--analysis of a daily challenging task.

Journal of intellectual disability research : JIDR·2012

Area of Science:

  • Genetics
  • Medical Genetics
  • Molecular Biology

Background:

  • Fragile X syndrome, a distinct form of mental retardation, is linked to a specific marker (Xq27.3) on the X chromosome.
  • It represents the most common Mendelian form of intellectual disability, primarily affecting males.
  • Carrier males can transmit the mutation to offspring, potentially leading to affected sons.

Purpose of the Study:

  • To summarize the understanding of fragile X syndrome.
  • To highlight the significance of diagnostic advancements.
  • To introduce ongoing molecular investigations into the mutation's structural basis.

Main Methods:

  • Detection of the fragile X chromosome marker in blood and amniotic fluid cells.
  • Application of DNA probes and restriction fragment length polymorphisms (RFLPs) for inheritance studies.
  • Molecular studies to analyze the underlying mutation.

Main Results:

  • Established methods allow for population screening and prenatal diagnosis.
  • DNA-based techniques have revealed potential genetic linkage heterogeneity.
  • Ongoing research aims to define the structural basis of the fragile X mutation.

Conclusions:

  • Fragile X syndrome is a significant genetic cause of intellectual disability with established diagnostic methods.
  • Advancements in DNA technology are refining the understanding of its inheritance patterns.
  • Further molecular studies are crucial for defining the mutation's structural basis.

Related Experiment Videos