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Fragile X Syndrome

Fragile X Syndrome. Kathryn Clark Tanya Tyler Divya Trehan Shalini Kochicheril. PEDIGREE FOR FRAGILE X SYNDROME. MODES OF INHERITENCE. Dominant Sex-Linked More dominant in males Only one copy of X chromosome 1 in 4000 males 1 in 8000 females. MAIN SYMPTOMS. Learning disabilities

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Fragile X Syndrome

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  1. Fragile X Syndrome Kathryn Clark Tanya Tyler Divya Trehan Shalini Kochicheril

  2. PEDIGREE FOR FRAGILE X SYNDROME

  3. MODES OF INHERITENCE • Dominant Sex-Linked • More dominant in males • Only one copy of X chromosome • 1 in 4000 males • 1 in 8000 females

  4. MAIN SYMPTOMS • Learning disabilities • Behavioral problems (such as hyperactivity, and autistic tendencies) • Physical characteristics (such as long face, protruding ears, lax joints and enlarged testes in males)

  5. Chromosomal Location • Mutation of FMR-I gene on X chromosome (chromosome locus Xq27) • Variable number of CGG trinucleotide repeats • Normal repeats are between 5 and 50 • Affected individuals typically have more than 200 • Fragile X syndrome is a trinucleotide repeat disorder that demonstrates anticipation.

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