2. DEFINITION
An inherited condition characterized by an X chromosome that is
abnormally prone to damage, especially by folic acid deficiency.
Affected individuals tend to be mentally handicapped.
https://www.google.com/?gws_rd=ssl#q=define+fragile+x+syndrome&spf=1496149001028
3. SYMPTOMS
ointellectual disabilities, ranging from mild to severe
oattention deficit and hyperactivity, especially in young children
oanxiety and unstable mood
oautistic behaviors, such as hand-flapping and not making eye
contact
osensory integration problems, such as hypersensitivity to loud noises
or bright lights
ospeech delay, with expressive language more severely affected than
receptive language
oseizures (epilepsy) affect about 25% of people with Fragile X
syndrome
4. CONTINUED…
Physical signs:
olong face, large prominent ears, flat feet
ohyperextensible joints, especially fingers
olow muscle tone
omales may have large testes after puberty
https://www.fraxa.org/fragile-x-syndrome/symptoms/
5. FACTS
oMore likely for boys to have it then girls
oYou may also not know that you are carrying this defect until it gets
passed along
oNormally, this gene contains a stretch of DNA? in which a three base?
sequence (CGG) is repeated up to about 30 times in a row.
oIn people with Fragile-X syndrome this three base sequence of DNA
is repeated over 200 times. This abnormal repetition of bases creates
the microscopic appearance of a gap on the long arm of the X
chromosome (see illustration below), hence the name, ‘fragile’-X
syndrome.
6. CONTINUED…
oThe FMR1 gene is responsible for providing instructions for making
‘Fragile-X mental retardation 1 protein’ (FMRP).
oThis protein is required for the brain to develop normally. It plays a
role in the development of synapses, specialized connections
between our nerve cells which are critical for relaying nerve impulses.
oThe Fragile-X mutation results in an FMR1 gene that is switched off,
which means that FMRP is no longer produced, preventing normal
neuronal development
http://www.yourgenome.org/facts/what-is-fragile-x-syndrome
7. CAUSES & TREATMENTS
oGenetics
oAppropriate education
oMedications
oTherapy
oCan only minimize the symptoms for a little while
https://www.nichd.nih.gov/health/topics/fragilex/conditioninfo/Pages/treatments.aspx
