Tuesday, November 6, 2018
Repeated USMLE Questions Step 1- 236
What is the etiology of this disorder?
A- Defective DNA repair mechanisms
B- Deletion of VHL gene on chromosome 3
C- Mutation in the NF1 gene on chromosome 17
D- Mutation in PKD1 on chromosome 16
E- Mutation in APC gene on chromosome 5
Ataxia-telangiectasia is a recessive autosomal disorder caused by defective DNA repair mechanisms. It results in weakness of immune systems which leads to multiple infections and increasing risk of cancer.
The correct answer is A