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Fragile Syndrome
Fragile Syndrome
FRAXA Syndrome
Fra(x) Syndrome
Marker X Syndrome
Martin-Bell Syndrome
Macroorchidism
FMR1 gene on the X chromosome makes a protein
called fragile x mental retardation protein (FMRP)
FMRP – protein required for normal neural
development.
FXS
depends on repetition CGG in FMR1 gene
where:
Range of repetition of Risk of having FXS
CGG
~6 – 44 Typical (normal)
~ 45 - 54 Intermediate
~ 55 – 200 Risk FXS (premutation/carrier)
> 200 Full mutation (FXS)
* FMRP : Fragile X Mental Retardation Protein
MALE FEMALE
XY chromosome XX chromosome
Delayed speech
Rapid, repetitive speech
Poor conversation skills
Good verbal imitative skills
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)
Ear infections
Eye problems
Strabismus (inability to focus both eyes
on an object)
Hyperopia (far-sightedness)
High blood pressure (can be treated with
medication)
Diagnosis of FXS is made through genetic testing to
determine the number of CGG repeats in FMR1
(carrier testing)
Therapy Treatments