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