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Related Experiment Videos

Fragile X screening program in a Spanish region.

J Gabarrón1, I Lopez, G Glover

  • 1Human Genetics Unit, Institute of Clinical Genetics and Biochemistry, Murcia, Spain.

American Journal of Medical Genetics
|April 1, 1992
PubMed
Summary

Screening identified fragile X syndrome (fra(X)) in 12.1% of males in a Spanish region. Genetic counseling and prenatal diagnostics were offered to at-risk families, demonstrating significant prevention potential.

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Area of Science:

  • Genetics
  • Neurology
  • Public Health

Background:

  • Fragile X syndrome (fra(X)) is a significant genetic cause of intellectual disability.
  • Early diagnosis and intervention are crucial for managing fra(X).
  • Population screening can identify undiagnosed cases and at-risk individuals.

Purpose of the Study:

  • To determine the prevalence of fragile X syndrome in a defined population.
  • To identify carriers and at-risk individuals for genetic counseling.
  • To evaluate the cost-effectiveness of a population-based screening program for fra(X).

Main Methods:

  • Screening of 371 males with intellectual disability in a Spanish region.
  • Diagnostic testing for fragile X syndrome (fra(X)).
  • Family studies to identify carriers and conduct genetic counseling, including prenatal diagnostic information.

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Main Results:

  • Fifty-three out of 371 males screened were positive for fra(X).
  • 12.1% of unrelated males tested were positive for fra(X).
  • Numerous carriers and at-risk women were identified, with potential for 23 affected male births.

Conclusions:

  • Population-based screening for fragile X syndrome is effective in identifying affected individuals.
  • Genetic counseling and prenatal diagnostics significantly aid in prevention.
  • The screening program demonstrates high cost-effectiveness in preventing fra(X) cases.