A 4-year baby is having a large face, large jaw, large ear and macroorchidism is –
Correct Answer: Fragile X syndrome
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.
Normally, a codon is triplet (trinucleotide).
In these type of disorders, this trinucleotide sequence undergoes amplification and the same sequence is repeated many times in the genome.
In most cases, the affected sequences share the nucleotide G and C.
Clinical features of fragile - X syndrome
Mental retardation
Large testis (macroorchidism)
Large everted ears
Hyperextensible joint
Long face with large mandible
High arched palate
Mitral valve prolapse
Category:
Pediatrics
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