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135664 Unknown

A 4-year-old child presented with symptoms of unsteady gait, tremors and frequent shivering in the body along with headaches and dizziness for past 6 months. There was history of frequent chest infections and few episodes of seizures in the past. The child was normal at bih. O/E: – Speech, hearing and visual impairment Discoloration of areas of skin exposed to sunlight. MRI brain was done along with MR spectroscopy which showed a choline peak. The gene responsible for the above condition is present on which of the following chromosome: –

A11q
B11p
C12q
D12p
Unknown
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