Fragile X Syndrome
Facts
:
X linked defect, FMR1 gene
Triplet repeat
(CGG) disorder, with anticipation
Second MCC of genetic mental retardation
History / PE
:
Learning disabilities
Hyperactivity
Short attention span
Autism
Prominent jaw
Large, low set ears
Macroorchidism
July 19th 2010
Categories
Internal Medicine
Pediatrics
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