Fragile X syndrome is a genetic condition caused by a mutation on the FMR1 gene on the X chromosome. This mutation causes the FMR1 gene to produce little to no fragile X mental retardation protein (FMRP), which is important for neural development. Those with over 200 CGG repeats on the FMR1 gene have the full mutation and typically experience intellectual disabilities and distinctive physical features. Treatment focuses on managing symptoms through therapies and medications that target issues like attention deficits or anxiety. Genetic counseling is recommended for families with a history of the syndrome.

2.  Fragile X Syndrome (FXS)
is syndrome that closely
associated with the gene
FMR1 that results in an
intellectual disabilities as
well as affects physical
characteristic of the
person.

3.  FXS
 FRAXA Syndrome
 Fra(x) Syndrome
 Marker X Syndrome
 Martin-Bell Syndrome
 X-linked Mental Retardation
 Macroorchidism

5.  FMR1 gene on the X chromosome makes a protein
called fragile x mental retardation protein (FMRP)
 FMRP – protein required for normal neural
development.
Range of repetition of
CGG
Risk of having FXS
~6 – 44 Typical (normal)
~ 45 - 54 Intermediate
~ 55 – 200 Risk FXS (premutation/carrier)
> 200 Full mutation (FXS)
 FXS depends on repetition CGG in FMR1 gene
where:

7. * FMRP : Fragile X Mental Retardation Protein

8. MALE
XY chromosome
(because there is
only 1 X
chromosome &
easier to have FXS)
FEMALE
XX chromosome
(since there are 2 X
chromosomes &
more common to be
a carrier of FXS)

10.  Large testes
(Macroorchidism)
 Large ears
 Long, narrow face
 Soft skin
 Poor eyesight
 Large body size
 Square chin
 Frontal bossing

11. •Developmental delays
•Mental retarded
•Learning disabilities
 Delayed speech
 Rapid, repetitive speech
 Poor conversation skills
 Good verbal imitative skills

12.  Sleeping
 Mouth stuffing
 “picky” eaters
 Socialization
 Toilet training
 Over sensitivity to sounds
 Difficult to calm and comfort
 Excessive mouthing and drooling
 Playful (spinning objects, play with
exclusive toy, or part of toy)

13.  Ear infections
 Eye problems
 Strabismus (inability to focus both eyes
on an object)
 Hyperopia (far-sightedness)
 High blood pressure (can be treated with
medication)

14.  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.

15.  There is NO SPECIFIC TREATMENT for FXS
 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.

16.  Genetic counselling maybe helpful if a
couple have family background of this
syndrome and are planning to have a baby.

17.  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
 http://www.en.wikipedia.org/wiki/Fragile_X_syndrome
 http://www.sciencemuseum.org.uk/WhoAmI/FindOutMore
/Yourgenes/Whatcausesgeneticconditions/WhatisX-
linkedinheritance/WhatisFragile-Xsyndrome.aspx
 http://www.childrenhospital.org/az/Site1788/mainpageS
1788P1.html
 http://simpsonfamilychallenge.blogspot.com/2012/09/th
e-fragilest-x-planation-of-journey.html
 http://www.whonamedit.com/synd.cfm/2071.html
 http://www.springerreference.com/docs/html/chapterdb
id/180078.html