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

Wed, 2008-08-27 18:33

qusei

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.

Wed, 2008-08-27 20:02

(0 إعجاب)

khalaf77

شكرا دكتور

Wed, 2008-08-27 20:10

(0 إعجاب)

qusei

شكرا دكاترة

Wed, 2010-09-15 22:08

(0 إعجاب)

loover

السنة الخامسة

Fri, 2010-09-17 05:33

(0 إعجاب)

medfreak

السنة الخامسة