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 CROMOSOMAL INSTABILITY SYNDROME?  



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Author8 Posts
  #1

can any body tell what is the pathophysiology???/
and why these disorders r prone for cancers???




  #2

I can honestly say I can't recall ever seeing or hearing of that Dz. Erm, is there any other information you have on it at all? I would suppose that if it can lead to cancer then it has something to do with either initiating and keeping transcription factors turned on all the time or demethylating heterochromatin or something to do with oncogenes, or something of that nature.


  #3

Is it USMLE relevant?


  #4

BLOOM SYNDROME ...FANCONI ANEMIA...THESE R EX. OF CROMOSOMAL INSTABILITY SYNDROMES///
I CAME ACROSS IT ...WHILE READING ..BUT DONT KNOW DETAILS ABOUT IT


  #5

They come under the heading rare inherited cancers and comprise only about 20% of of all malignancies. They are also called chromosome breakage syndromes or DNA repair syndromes.
There are a half dozen . The main four are as said:Bloom, Fanconi anemia, Ataxia telangiectasia, and lastly Xeroderma Pigmentosa which is probably the most important one for us!

Xeroderma pigmentosa key words: Sensitivity to sunlight, skincancer,
mental deterioration, thymine dimers, *excision endonuclease


  #6

thanx a lot mjl......


  #7

just to add...............
ataxia telangiectasia is also imp in the exam

both T&B cell deficiencies seen with selective IgA def causing sinopulm infections, and as everyone knows with ataxia in the childhood, telangictasia can be seen in the eyes.


  #8

sarangi- you are right-ataxia telangiectasia is important I didnt feel like typing it before,key words:

hypersensitivity to ionizing radiation, cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency as you say, defect in enzyme involved in DNA repair?





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