| 单词 | Syndrome,Louis-Bar |
| 释义 | Syndrome,Louis-Bar《英文msh词典》Syndrome,Louis-Bar [入口词] Syndrome,Louis-Bar [主题词] Ataxia Telangiectasia [英文释义] 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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