All are true about Fragile X syndrome except ?
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.
Large'head
Large nose
Large ear
Large testis