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Pathology General 4f9e3063

All are true about Fragile X syndrome except ?

A
Large'head
B
Large nose
C
Large ear
D
Large testis
High-Yield Explanation
Ans. is 'b' i.e., Large nose Fragile - X syndrome o Fragile - X syndrome is the prototype of diseases in which the mutation is characterized by a long repeating sequence of three nucleotides. In fragile X syndrome,trinucleotide repeat mutation involve CGG on non coding region. o Clinical features of fragile - X syndrome Mental retardation Long face with large mandible q Hyperexntesible joint q Mitral valve prolapse Large eveed ears Large testis (macro-orchidism) q High arched palate o Fragile X syndrome is the second most common cause of mental retardation, after Downs syndrome.

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