ATAXIA TELANGIECTASIA SYNDROME
\atˈe͡ɪksi͡ə tˌɛlɐŋɡa͡ɪktˈe͡ɪzi͡ə sˈɪndɹə͡ʊm], \atˈeɪksiə tˌɛlɐŋɡaɪktˈeɪziə sˈɪndɹəʊm], \a_t_ˈeɪ_k_s_iə t_ˌɛ_l_ɐ_ŋ_ɡ_aɪ_k_t_ˈeɪ_z_iə s_ˈɪ_n_d_ɹ_əʊ_m]\
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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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Word of the day
Procollagen Proline Dioxygenase
- mixed-function oxygenase that catalyzes hydroxylation prolyl-glycyl-containing-peptide, usually in protocollagen, hydroxyprolylglycyl-peptide. The enzyme utilizes molecular oxygen with a concomitant oxidative decarboxylation of 2-oxoglutarate to succinate. EC 1.14.11.2.
Nearby Words
- ataxaphasia
- ataxia
- ataxia of gait
- ataxia spirituum
- ataxia telangiectasia
- Ataxia Telangiectasia Syndrome
- ataxia, ataxy
- ataxiadynamia
- ataxiagram
- ataxiagraph
- ataxial