fragile x syndrome.

1. FRAGILE X SYNDROME By
Omer ASLANKAN

2. FRAGILE X SYNDROME
• Is the expansion of a single trinucleotide
gene sequence (CGG) on the X
chromosome.
• This expansion results in a failure to
express the protein coded by the FMR1
gene.
• The expression of this protein is required
for normal neural development.

3. OTHER NAMES USED FOR
FRAGILE XSYNDROME
• FXS
• FRAXA Syndrome
• Fra(x) Syndrome
• Marker X Syndrome
• Martin-Bell Syndrome
• X-linked Mental Retardation
• Macroorchidism

4. CAUSES OF FRAGILE X SYNDROME
• The gene responsible for fragile X is called the
FMR1 (fragile X mental retardation 1) gene.
• The full mutation causes the gene to shut down of
methylate a region of the FMR -1 gene.
• Normally, the FMR-1 gene produces a protein called
FMRP. When the gene is turned off, the individual
does not make fragile X mental retardation protein
(FMRP). The lack of this specific protein causes
fragile X syndrome.
• At full mutation, the CGG sequence can be repeated
more than 200 times (29-31 is normal)

7. SYMPTOMS
• Behavioral aspects
• Neurological
• Physical features
• - large, protruding ears
• - Long face
• - High-arched palate
• - Flat feet
• - soft skin
• - Hypotonia

8. DIAGNOSIS
• Diagnosis of FXS is made through genetic testing to
determine the number of CGG repeats in FMR1 (carrier
testing)
• Carrier testing: Carrier testing is used to identify who
carry a copy of gene mutation or in two copies, causes a
genetic disorder. This type of testing is offered to
individuals who have a family history of a genetic
disorder.
• PCR
• Southern blot of DNA
• Antibody test

9. TREATMENT
• There is NO SPECIFIC TREATMENT for Fragile X Syndrome
• Therapy Treatments
• - speech-language therapists – improve their pronunciation of words
and sentences, slow down their speech, and use language more
effectively.
• - Occupational therapists – help find ways to adjust tasks and
conditions to match a person’s needs and abilities.
• - Physical therapists – design activities and exercises that help build
motor control and improve posture and balance.
• - Behavioural therapists try to understand why someone with Fragile
X acts out, and they create ways and strategies for avoiding or
preventing these situations from occurring while also teaching better
or more positive ways to respond to situations.
• However they are some symptoms that can be controlled by a
medication such as attention deficit, hyperactivity, anxiety, and
aggression.

10. REFERENCES
• https://www.acibadem.com.tr/hayat/genetik-bir-hastalik-frajil-x-sendromu/
• https://www.mehmetoyal.k12.tr/farajil-x-sendromu
• http://www.en.wikipedia.org/wiki/Fragile_X_syndrome.
• https://quizlet.com/16660166/fragile-x-flash-cards/
• http://www.docstoc.com/docs/105578229/Fragile-X-Syndrome---PowerPoint
• http://www.fragilex.org/fragile-x-associated-disorders/fragile-x-syndrome
• http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002633

11. THANK YOU