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Pathology Neoplasia 9939f325

Which of the following is not associated with malignancy:

A
Fragile X syndrome
B
Fanconi's syndrome
C
Down's syndrome
D
Bloom syndrome
High-Yield Explanation
Ans. is 'a' Fragile X syndrome Fragile X syndrome is not associated with increased risk of malignancyDown's syndromeis associated with increased risk of leukemias.Fanconi's syndrome and Bloom's syndromebelong to autosomal recessive syndromes of defective DNA repair.These syndromes are associated with increased risk of malignancy. It includes:Fanconi's syndrome*Bloom syndrome*Ataxia telangiectasia*Xeroderma pigmentosa*Fragile X syndromeIs the most frequent cause of hereditary mental retardation*.It is caused by a fragile chromosomal site located on the distal long, arm of chromosome X. There is an amplification of a polymorphic CGG repeat in the fragile site.Cardinal characteristic of the condition is testicular enlargement (macro orchidism)*Other clinical manifestations are:Mental retardation*Large size *Long face*Prominent jawLarge prominent ears*Stereotyped behaviour and speech

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