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

Fragile X screening program in New York State.

S L Nolin1, D A Snider, E C Jenkins

  • 1New York State Institute for Basic Research in Developmental Disabilities, Staten Island 10314.

American Journal of Medical Genetics
|February 1, 1991
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

Search for Fractionally Charged Particles in Proton-Proton Collisions at sqrt[s]=13  TeV.

Physical review letters·2025
Same author

Search for Nuclear Modifications of B^{+} Meson Production in p-Pb Collisions at sqrt[s_{NN}]=8.16  TeV.

Physical review letters·2025
Same author

Search for New Resonances Decaying to Pairs of Merged Diphotons in Proton-Proton Collisions at sqrt[s]=13  TeV.

Physical review letters·2025
Same author

Searches for Pair-Produced Multijet Resonances Using Data Scouting in Proton-Proton Collisions at sqrt[s]=13  TeV.

Physical review letters·2024
Same author

Search for Soft Unclustered Energy Patterns in Proton-Proton Collisions at 13 TeV.

Physical review letters·2024
Same author

Search for the Z Boson Decay to ττμμ in Proton-Proton Collisions at sqrt[s]=13  TeV.

Physical review letters·2024

New York State

Area of Science:

  • Genetics
  • Medical Genetics
  • Neurodevelopmental Disorders

Background:

  • Fragile X (fra(X)) syndrome is a significant cause of inherited intellectual disability.
  • Many affected males in New York State remain undiagnosed, leaving female relatives unaware of their genetic risks.
  • Early identification of fra(X) is crucial for genetic counseling and family planning.

Purpose of the Study:

  • To establish a screening program for fragile X syndrome in mentally retarded males in New York State.
  • To identify affected males and inform their families about the diagnosis and associated risks.
  • To facilitate risk assessment for female relatives of affected individuals.

Main Methods:

  • Development of a screening form assessing 10 features (physical, behavioral, family history).

Related Experiment Videos

  • Males exhibiting at least 5 features, or macroorchidism/family history of intellectual disability, were selected for cytogenetic analysis.
  • A two-step screening procedure was employed to efficiently evaluate a large population.

    • Main Results:

    • 995 males were screened, with 352 (35%) selected for cytogenetic analysis.
    • 17 out of 161 completed studies (10.5%) were positive for fragile X (fra(X)).
    • Numerous potential female carriers were identified within the families of affected males.

    Conclusions:

    • The program successfully identified previously undiagnosed fragile X (fra(X)) males within the intellectually disabled population.
    • The two-step screening approach is effective for large-scale fra(X) identification without universal cytogenetic testing.
    • This initiative improves genetic awareness and risk assessment for families, particularly for female relatives.