Fragile X Syndrome

  • X-linked dominant inheritance. Trinucleotide repeat in FMR1 gene → hypermethylation → ↓expression→ Preventing neural development. Most common cause of inherited intellectual disability and 2nd most common cause of genetically associated mental deficiency (after Down syndrome).
  • Findings: post-pubertal macroorchidism (enlarged testes), long face with a large jaw, large everted ears, autism, mitral valve prolapse.
  • Trinucleotide repeat expansion [(CGG)n] occurs during oogenesis.

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