1. Kathryn Clark Tanya Tyler Divya Trehan Shalini Kochicheril
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.