ATAXIA TELANGIECTASIA
\atˈe͡ɪksi͡ə tˌɛlɐŋɡa͡ɪktˈe͡ɪzi͡ə], \atˈeɪksiə tˌɛlɐŋɡaɪktˈeɪziə], \a_t_ˈeɪ_k_s_iə t_ˌɛ_l_ɐ_ŋ_ɡ_aɪ_k_t_ˈeɪ_z_iə]\
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An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive cerebellar ataxia, telangiectasis of conjunctiva and skin, dysarthria, B- and T-cell immunodeficiency, and sensitivity to ionizing radiation. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder has been mapped to the long arm of chromosome 11 (11q22.3).
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