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New York State screening program for fragile X syndrome: a progress report.

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
|April 1, 1992
PubMed
Summary

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New York screened males for fragile X syndrome, identifying 9% with the condition. This screening aims to inform families, enabling at-risk females to make reproductive choices.

Area of Science:

  • Genetics
  • Medical Screening
  • Public Health

Background:

  • Fragile X syndrome is a genetic disorder affecting cognitive abilities.
  • Early identification is crucial for family planning and genetic counseling.
  • New York State initiated a screening program for affected males.

Purpose of the Study:

  • To screen post-pubertal males for fragile X syndrome in New York State.
  • To identify affected individuals and their families.
  • To facilitate reproductive decision-making for at-risk females.

Main Methods:

  • Physicians and nurses evaluated 1332 males for 10 fragile X syndrome features.
  • Cytogenetic analysis was performed on 489 males.
  • Data collection on family screening and genetic counseling uptake.

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Main Results:

  • 43 out of 1332 males (9%) screened positive for fragile X syndrome.
  • 11 additional chromosomal abnormalities were identified.
  • 38 families were identified with affected individuals; 12 sought genetic counseling.

Conclusions:

  • The screening program successfully identified males with fragile X syndrome.
  • Family-based genetic counseling is essential for reproductive health.
  • Further research is needed on the uptake and impact of genetic counseling services.