Which is not true about Fragile X syndrome?
Correct Answer: Pigmented nevi
Description: Fragile - X syndrome
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 involves CGG on the non-coding region.
Clinical features of fragile - X syndrome
Mental retardation
Long face with large mandible
Hyperextensible joint
Mitral valve prolapse
Large everted ears
Large testis (macroorchidism)
High arched palate
Fragile X syndrome is the second most common cause of mental retardation, after Downs syndrome.
Category:
Pediatrics
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