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Chromosomal Disorders List

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18K views 4 replies 4 participants last post by  Manojprabhakar 
#1 ·
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

Best Regards,
Sam. :D
 
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#2 ·
Btw i don't know why the masters of the usmle step 2 ck moved those subjects to the step 1 :confused: i know it is related to genetic which is a subject of step 1, but still this kind of stuff are commonly asked on step 2 ck exam :not sure: ..can't we make a duplicate on the Step 2 ck High yield forum ?? Happy-2
 
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