Louis Bar Syndrome

《英文msh詞典》Louis Bar Syndrome
[入口詞] Louis Bar Syndrome
[主題詞] Ataxia Telangiectasia
[英文釋義] 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).