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Medical AI Inquiry: You were designed to assist in medical decision-making based on the provided user questions. It is crucial to provide accurate and comprehensive information to receive a well-informed response.
user
A4 year baby is having large face, large jaw, large ear and macro orchidism is -
assistant
The correct answer is  Ans. is 'd' i.e., Fragile X syndrome 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. o Normally, a codon is triplet (trinucleotide). o In these type of disorders, this trinucleotide sequence undergoes amplification and the same sequence is repeated many times in the genome. o In most cases the affected equences share the nucleotide G and C. o Clinical features of fragile - X syndrome Mental retardation Hyperexntesible joint Long face with large mandible Large testis (macro-orchidism) High arched palate Mitral valve prolapse Large eveed ears