List of Important Chromosomal Abnormalities - USMLE Forums
USMLE Forums Logo
USMLE Forums         Your Reliable USMLE Online Community     Members     Posts
Home
USMLE Articles
USMLE News
USMLE Polls
USMLE Books
USMLE Apps
Go Back   USMLE Forums > USMLE Step 1 Forum > USMLE Step 1 High Yield > USMLE Step 1 Bits & Pieces

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


Reply
 
Thread Tools Search this Thread Display Modes
  #1  
Old 05-12-2012
USMLE Forums Guru
 
Steps History: Step 1 Only
Posts: 452
Threads: 11
Thanked 354 Times in 197 Posts
Reputation: 364
DNA List of Important Chromosomal Abnormalities

So I was deciding on making a list of the important chromosomes and their associated disorders...

Huntington's- Chromosome 4
ADPKD- Chromosome 16
APC- Chromosom 5
Neurofibromatosis type 2- Chromosome 22
Neurofibromatosis type 1- Chromosome 17
VHL- Chromosome 3
Cystic fibrosis - Chromosome 7
Osteogenesis imperfecta- Chromosome 7 or 17
Cru Di Chat- 5p deletion
Williams syndrome- Chromosome 7
DiGeorges- Chromosome 22

Is there any more ones i should add? I mean besides the obvious trisomies etc
Reply With Quote Quick reply to this message
The above post was thanked by:
Annie Rizwan (05-12-2012)



  #2  
Old 05-12-2012
USMLE Forums Master
 
Steps History: 1+CK+CS
Posts: 1,406
Threads: 118
Thanked 642 Times in 407 Posts
Reputation: 652
Default

The DIT dude said they wont ask you the chromosome the gene is on, just will ask you the gene itself.

I already have most of this in my head but it seems its not necessary.
__________________
"inflammable means flammable!? What a country."
Reply With Quote Quick reply to this message
  #3  
Old 05-12-2012
USMLE Forums Guru
 
Steps History: Step 1 Only
Posts: 452
Threads: 11
Thanked 354 Times in 197 Posts
Reputation: 364
Default

Quote:
Originally Posted by Dr.NickRiviera View Post
the DIT dude said they wont ask you the chromosome the gene is on, just will ask you the gene itself.

i already have most of this in my head but it seems its not necessary.
Yeah most of these are ingrained into our brains already but just wanted to make sure i wasn't missing any big ones.

And yeah he said that but he also said that knowing how to distinguish viruses on the basis of enveloped/naked or single stranded or double stranded aren't important either but we all know thats not true
Reply With Quote Quick reply to this message
  #4  
Old 05-13-2012
USMLE Forums Addict
 
Steps History: Not yet
Posts: 135
Threads: 3
Thanked 73 Times in 48 Posts
Reputation: 83
Default

Angelman, Prader wili, Marfan - 15
Reply With Quote Quick reply to this message



Reply

Tags
Genetics-

Quick Reply
Message:
Options

Register Now

In order to be able to post messages on the USMLE Forums forums, you must first register.
Please enter your desired user name, your email address and other required details in the form below.
User Name:
Password
Please enter a password for your user account. Note that passwords are case-sensitive.
Password:
Confirm Password:
Email Address
Please enter a valid email address for yourself.
Email Address:
Medical School
Choose "---" if you don't want to tell. AMG for US & Canadian medical schools. IMG for all other medical schools.
USMLE Steps History
What steps finished! Example: 1+CK+CS+3 = Passed Step 1, Step 2 CK, Step 2 CS, and Step 3.

Choose "---" if you don't want to tell.

Favorite USMLE Books
What USMLE books you really think are useful. Leave blank if you don't want to tell.
Location
Where you live. Leave blank if you don't want to tell.

Log-in

Human Verification

In order to verify that you are a human and not a spam bot, please enter the answer into the following box below based on the instructions contained in the graphic.



Thread Tools Search this Thread
Search this Thread:

Advanced Search
Display Modes


Similar Threads
Thread Thread Starter Forum Replies Last Post
Chromosomal Disorders List sam88 USMLE Step 1 Bits & Pieces 4 10-05-2015 12:56 AM
Chromosomal Disorders List sam88 USMLE Step 2 CK Bits & Pieces 4 10-09-2013 02:11 PM
question - antidepressant and ekg abnormalities mtoi USMLE Step 1 Forum 2 10-30-2010 08:06 AM
The Clinically Important List of Urease Producing Bacteria YoramFishke USMLE Step 2 CK Bits & Pieces 0 03-11-2010 12:44 AM
List of Important EKGs for the CK Exam FSUSTC USMLE Step 2 CK Bits & Pieces 0 03-01-2010 10:21 PM

RSS Feed
Find Us on Facebook
vBulletin Security provided by vBSecurity v2.2.2 (Pro) - vBulletin Mods & Addons Copyright © 2017 DragonByte Technologies Ltd.

USMLE® & other trade marks belong to their respective owners, read full disclaimer
USMLE Forums created under Creative Commons 3.0 License. (2009-2014)