Definition:
X-linked mental retardation and macroorchidism otherwise known as the Fragile X syndrome,Fragile Site, Folic Acid Type, Rare, Fra(X)(Q27.3), the Marker Syndrome or the Martin Bell Syndrome, a mental retardation associated with the to x-link retardation. Its incidence includes 1 in 3600 males and 1 in 4,000–6,000 females (Crawford, D.C.; Acuna, J.M. & Sherman, S.L. (2001) "FMR1 and the Fragile X syndrome: Human genome epidemiology review". Genet Med 3: 359-371)
Diagnosis:
Diagnosis of the X-linked mental retardation and macroorchidismis through physical and laboratory examination of the cells.
Treatment:
At present there is no cure for the syndrome itself but treatment focuses more on the therapy of behavior, special education and medications.
Symptoms and Signs:
Symptoms includes intellectual disability, eongated face, protruding ears, macroorchidism or having larger testicles, cluttered speech and stereotypic movements.
Causes:
It is said to be caused by the mutation of the FMR1 gene on the chromosome X.
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