27 Things to Know About Fragile X Syndrome

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  1. It is a genetic condition
  2. Males are more affected than females
  3. Seizures occur in about 15% of males and 5% of females
  4. 1/3 individuals have similar characteristics of autism
  5. Features may include long and narrow face. large ears prominent jaw and flat feet
  6. Fragile X occurs in approximately 1 in 4,000 males and 1 in 8,000 females
  7. Symptoms oftn often include mild to moderate intellectual disability
  8. Child with Fragile X tend to have short attention span
  9. Self-talk is common using different tones and pitches
  10. In 1969, Herbert Lubs first discovered an unusual markers X chromosome in association with an intellectual disability.
  11. In 1970, Frederick Hecht coined the term Fragile site
  12. In 1985 Felix F. De La Cruz outlined physical. psychological, characteristics of those
  13. It is inherited
  14. Early signs may include developmental delays such as late developmental in sitting, walking, etc.
  15. In 1943, James, Purdon Martin and Julia Bell described a pedigree of the x-linked mental disability
  16. Fragile X is caused by a mutation in a single gene.
  17. Fragile X is also called Martin-Bell Syndrome
  18. Fragile X Syndrome has been found in all major ethnic groups and races
  19. Fragile x is the most common form of inherited developmental disability
  20. Fragile X is often mis-diagnosed
  21. It is formally named Martin-Bell
  22. It was first discovered  in 1943
  23. It is found in all races and socio-economic levels
  24. It varies from borderline to severe
  25. Diagnosis of Fragile X is due through DNA test and genetic counseling
  26. Fragile X changes can occur from one generation to the next
  27. Fragile X is inherited through the mother

 

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