Chromosomal Disorders List
Hey guys...Here is a list of Chromosomal disorders, hope you find it useful
Chromosome 5 :
Chromosome 6 :
Chromosome 7 :
Chromosome 11p :
Sickle Cell Disease.
Chromosome 12q :
Chromosome 13 :
Chromosome 15 :
Chromosome 16,4 :
Polycystic Kidney Disease (PKD1, PKD2) respectively.
Chromosome 17p :
Chromosome 18 :
Chromosome 21 :
Chromosome 22 :
This is what i was able to gather...Feel free to add anything that is missing
P.S : I did open the same subject on the usmle step 1 forums but i also find it a high yield for the step 2 ck exam so i did post it here too.
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NF-I on Chromosome 17 or 22 ??
Just wondering if Neurofibromatosis-1 is not a disorder of Chromosome 17?
NF-1 is caused by a mutation of a gene on the long arm of chromosome 17 which encodes a protein known as neurofibromin (not to be confused with the disorder itself) which plays a role in cell signaling.
However, NF II is caused by a defect in the gene that normally gives rise to a product called Merlin or Schwannomin, located on chromosome 22 band q11-13.1. This peptide is thought to have a tumor-suppressive function
Guys..please do the double check.
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