Which of the following is true regarding ataxia telangiectasia?: (A) It is X linked recessive disease, (B) It is autosomal recessive disorder, (C) It is associated with increased levels of IgM, (D) None of the above
Answer is B. Ans. (b) It is autosomal recessive disorder(Ref: Robbins 9th ed p 315)Several rare autosomal recessive cancer syndromes have been described that are characterized by hypersensitivity to certain kinds of DNA-damaging agents, such as ionizing radiation (Bloom syndrome and ataxia-telangiectasia), or DNA cross-linking agents, such as many chemotherapeutic drugs (Fanconi anemia). The phenotype of these diseases is complex and includes, in addition to predisposition to cancer, features such as neural symptoms (ataxia- telangiectasia), bone marrow aplasia (Fanconi anemia), and developmental defects (Bloom syndrome).