asmi
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A 34-year-old African American man presents with multiple hyperpigmented patches. His history reveals that his mother died of breast cancer, but she had similar hyperpigmented patches, to a lesser degree. On exam, he has axillary freckling and pigmented changes in his eyes, but normal auditory acuity. FISH analysis identifies a deletion at 17q11. Which of the following statements is correct regarding his condition?
A. The characteristic cutaneous tumors undergo malignant degeneration to sarcomas.
B. The degree of expressivity of this trait across generations approaches 100%.
C. Mean life expectancy is 40 years old.
D. The protein deleted is a cytoskeleton-associated protein.
E. This trait is X-linked dominant.
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| rida
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I believe this is neurofibramatosis 1, which i know for sure is autosomal dominant, and the only choice that makes sense to me is A.
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| Idiopathic
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I think it will be B. The nodules are neural in nature and should not develop into sarcomas...but I could be wrong.
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| asmi
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Rida you are right  A is answer but it is lifraumani syndrome .
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| rida
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oh thanx asmi
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| Idiopathic
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Thats right...I forgot the breast CA association. Thanks.
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| meghana jadhav
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li fraumani sy. is autosomal dominat disease with p53 tumour supreesor gene mutation
dignostic criteria r
sarcoma in age yonger than 45
first degree relative with cancer in the age <45 yrs
and 1st or 2nd degree ralative with any cancer diagnosed before45 yrs
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megha
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