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Pathology General 9ea0a815

The following diseases have defect in DNA repair mechanism except for -

A
Xeroderma Pigmentosa
B
Fanconi syndrome
C
Huntington's disease
D
Hereditary non polyposis colon cancer
High-Yield Explanation
Ans. is 'c' i.e., Huntington's disease Several genetic disorders have defective DNA repair capability due to involvement of DNA repair enzymes. o Mutation caused by defects in DNA repair accumulate as somatic cells divide these type of mutation can cause neoplastic growth. So, all these disorders have significantly increased risk of cancer. o Inherited autosomal recessive syndromes of defective DNA repair Ataxia Telangiectasia Fanconia anemia Hereditary Nonpolyposis cancer (Only Bloom syndrome Xeroderma pi gmentosum autosomal dominant) o These disorders are associated with such a high level of chromosomal instability that they are known as chromosome - breakage syndrome.

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