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.
|The above post was thanked by:|
aboalseek (10-24-2013), amnios (03-10-2012), ayad_lydia (04-11-2012), azadeh (01-22-2012), brca123 (06-25-2012), doctorKEMC (05-13-2012), IMG_2013 (12-21-2014), kunalbhuta (05-13-2012), MDS91 (10-09-2014), Novobiocin (04-07-2012), pass7 (12-30-2011), tanujasalim (03-29-2012), vnagubandi (06-27-2013), Xaquake (02-22-2012)
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.
|Thread Tools||Search this Thread|
|Thread||Thread Starter||Forum||Replies||Last Post|
|Chromosomal Disorders List||sam88||USMLE Step 1 Bits & Pieces||4||10-04-2015 11:56 PM|
|X Linked Recessive Disorders List Mnemonic||USMLE-Syndrome||USMLE Step 2 CK Mnemonics||2||11-24-2011 12:49 AM|
|Differentiating Schizophrenic disorders from Mood Disorders||struggle||USMLE Step 1 Forum||1||06-10-2011 09:06 PM|
|List of Mitochondrial Inherited disorders||anoop_1198||USMLE Step 1 Bits & Pieces||0||05-18-2010 09:29 AM|
|List of X linked Recessive disorders||rasheed||USMLE Step 1 Bits & Pieces||3||05-18-2010 06:11 AM|