FRAGILE X SYNDROME

MUTATION

• The mutation that creates this syndrome occurs in the FMR1 gene.
• It is known as CGG triple repeat
• This mutation is most commonly found in females because it is an X-linked

CHROMOSOME # INVOLVED

• A full set of chromosomes is involved
• A special piece is involved that piece is called CGG

EFFECTS

• Affects ability to think reason and learn
• Disorders with Math
• Mild to severe intellectual and and developmental disabilities
• Possible physical issues include narrow face, large ears, flexible joint, and large forehead

TREATMENTS

• Although there is no cure there is a great deal of possible treatment
• Special education services for those with learning problems
• Psychological Therapy
• Fragile X clinics

TEST TO DETERMINE IF THE FETUS/ADULT HAS THE DISORDER

• Southern blot analysis determines if the gene contains the full mutation
• The polymerase chain reaction can determine the actual number of CGG repeats

LIFE EXPECTANCY

• From the time the symptoms begin the life expectancy ranges anywhere from 5-25 years

INHERITANCE PATTERN

• This syndrome is inherited in an X-linked dominated pattern
• It causes the mutation to occur on the X chromosome

PICTURE

SOURCES

• "Fragile X Syndrome." Genetics Home Reference. N.p., n.d. Web. 11 Feb. 2015.
• "Fragile X Syndrome: Click for Facts, Symptoms, and Treatment." MedicineNet. N.p., n.d. Web. 26 Feb. 2015. Website Parenthetical Edit Delete
• "Fragile X Syndrome ." Fragile X Syndrome. N.p., n.d. Web. 25 Feb. 2015. What are n.p. & n.d.? | Copy & Paste View in list Edit
• "FRAXA Home - Fragile X Syndrome." FRAXA Research Foundation. N.p., n.d. Web. 26 Feb. 2015.