The Fragile XE syndrome is distinct but similar to the Fragile X syndrome.


Chromosome location: Xq28 (vs Xq27.3 for Fragile X)


Gene: FMR2 = FRAXE = fragile site, folic acid type, rare, fra(x)(q28) E


Cause: expanded CCG repeats


Most affected patients are male.


Clinical features:

(1) mild mental retardation (less severe than seen with Fragile X)

(2) autism

(3) variable physical features


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