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Fragile X syndrome


Fragile X syndrome

المعلومة

Fragile X syndrome:
The most common cause of the inherited mental retardation

The most common cause of the mental retardation in boys
It includes:

mental retardation
large testicles
prominent jaw
large ears
wide nasal bridge
large head
stereotypical speech and behavior

متلازمة الصبغي الهش x :
اشيع سبب للتخلف العقلي الموروث .

المرجع

Kaplan pediatrics
by

Fragile X syndrome occurs in individuals with an FMR1 full mutation and is nearly
always characterized by moderate mental retardation in affected males and mild mental
retardation in affected females

.

More than 99% of individuals with fragile X syndrome have a
loss-of-function mutation in the FMR1 gene caused by an increased number of CGG
trinucleotide repeats (typically >200) accompanied by aberrant methylation of the FMR1 gene.
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