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: -
This is a classical case of ataxia telangiectasia. First image shows ocular telangiectasias. 2ndimage shows MRI demonstrating cerebellar volume loss and compensatory enlargement of the 4thventricle. Ataxia-telangiectasia: - Complex syndrome with immunologic, neurologic, endocrinologic, hepatic, and cutaneous abnormalities. 11q23 gene defect Presents with Progressive cerebellar ataxia Sinopulmonary disease Variable humoral and cellular immunodeficiency
11q
11p
12q
12p
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