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USMLE Step 2 CK Bits & Pieces High yield short focused points, monographs, charts, illustrations, tables, and other stuff related to the USMLE Step 2 CK Exam.


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  #1  
Old 12-19-2011
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List Chromosomal Disorders List

Hey guys...Here is a list of Chromosomal disorders, hope you find it useful


Chromosome 5 :
Cri-Du-Chat Syndrome.

Chromosome 6 :
Hemochromatosis.

Chromosome 7 :
Cystic Fibrosis.

Chromosome 11p :
Sickle Cell Disease.

Chromosome 12q :
Phynelketonuria.

Chromosome 13 :
Patau Syndrome.
Wilson Disease.

Chromosome 15 :
Angelman Syndrome
Prader-willi Syndrome
Tay-Sachs Disease.

Chromosome 16,4 :
Polycystic Kidney Disease (PKD1, PKD2) respectively.

Chromosome 17p :
Celiac Disease.
Charcot-Marie-Tooth Disease.

Chromosome 18 :
Edward Syndrome.

Chromosome 21 :
Down Syndrome.

Chromosome 22 :
Digeorge Syndrome.
Neurofibromatosis.

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.

Best Regards,
Sam.
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  #2  
Old 12-30-2011
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Default

niiiiiiiiiiiice thx
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Old 05-13-2012
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Default 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.

Regards:
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Old 05-13-2012
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Nice thanks
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Old 10-09-2013
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Default Huntington disease

caused by the presence of the HD gene located on chromosome 4p
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