Chromosomal Disorders List - USMLE Forums
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USMLE Step 1 Bits & Pieces High yield short focused points, monographs, charts, illustrations, tables, and other stuff related to the USMLE Step 1 Exam.


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  #1  
Old 12-17-2011
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DNA 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

Best Regards,
Sam.
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  #2  
Old 12-17-2011
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Btw i don't know why the masters of the usmle step 2 ck moved those subjects to the step 1 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 ??
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Old 06-20-2012
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Chr 17: NF1
Chr 22: NF2
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Old 06-20-2012
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chromosome 3- VHL
chromosome4-huntingtons disease
chromosome 5q-APC(adenomatosis polyposis coli)
chromosome9-friedrichs ataxia
chromosome11-wilms tumour
chromosome13-retinoblastoma
chromosome 18q-colon cancer and pancreatic cancer
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