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Pathology Genetics e2a1b722

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
High-Yield Explanation
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).

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