FRAGILE X SYNDROME:: Is a chromosomal disorder. Males xy, female xx. The abnormal fragile site located on distal long arm of x chromosome. If male inherits the abnormal one, they are affected. Manifestations: mental retardation, macro-orchidism (large testes), large body size, long face, prominent jaw, large prominent ears, sterotyped behavior/speech. Affected females may have mild mr, as the other x balances.
Answered 1/6/2014
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