Kathryn Clark Tanya Tyler Divya Trehan Shalini Kochicheril

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Kathryn Clark Tanya Tyler Divya Trehan Shalini Kochicheril 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 Behavioral problems (such as hyperactivity, and autistic tendencies) Physical characteristics (such as long face, protruding ears, lax joints and enlarged testes in males)

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.