Tay sachs genetic counseling - USMLE Forums
USMLE Forums Logo
USMLE Forums         Your Reliable USMLE Online Community     Members     Posts
USMLE Articles
Go Back   USMLE Forums > USMLE Step 2 CK Forum

USMLE Step 2 CK Forum USMLE Step 2 CK Discussion Forum: Let's talk about anything related to USMLE Step 2 CK exam

Thread Tools Search this Thread Display Modes
Old 06-07-2011
docoftheworld's Avatar
USMLE Forums Veteran
Steps History: 1 + CS
Posts: 204
Threads: 56
Thanked 42 Times in 37 Posts
Reputation: 52
Send a message via Skype™ to docoftheworld
Question Tay sachs genetic counseling

question from a forum, but no answer:

couple comes to you, the husband is jewish but not ashkenazi, they both do not have family history for TS, and they are worried if their children would get it, whats the next step?
1- test husband, if negative, no need to test wife
2- do nothing

what do you think?
Reply With Quote Quick reply to this message

Old 06-09-2011
1TA2B's Avatar
USMLE Forums Guru
Steps History: CK Only
Posts: 475
Threads: 39
Thanked 353 Times in 169 Posts
Reputation: 376
Default Ar-tsd

TSD is an autosomal recessive genetic disorder, meaning that when both parents are carriers, there is a 25% (1 in 4) risk of giving birth to an affected child. 50% (1/2) risk of unaffected carrier and 1/4 chance of unaffected child.

When a child has two defective copies of an autosomal gene, he is affected.

For that reason, if the father doesn't carry the gene, the child is not affected. However, he may well be unaffected carrier (1/2 chance).

I think your option-1 sounds reasonable.

But there is no family history of the disease in both parents. If they're 100% sure, I don't think we need to do any test. Unless there is another genetic abnormalities such as sporadic mutation which I don't think is the case in TSD to my knowledge.

Let's hear what others think!
To view links or images in signatures your post count must be 10 or greater. You currently have 0 posts.

Reply With Quote Quick reply to this message



Quick Reply

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:
Please enter a password for your user account. Note that passwords are case-sensitive.
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.
Where you live. Leave blank if you don't want to tell.


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
Genetic Counseling of CF Parents Claus_CU USMLE Step 1 Forum 19 07-24-2011 04:40 AM
Third Generation Marriage Counseling! doctorF USMLE Step 1 Forum 8 05-19-2011 09:26 AM
Tay Sachs and Niemann Pick In-N-Out USMLE Step 1 Forum 4 01-22-2011 08:09 PM
Tay Sachs disease jackat1000 USMLE Step 1 Mnemonics 6 04-16-2010 07:38 PM
depression counseling accurate USMLE Step 2 CS Forum 2 12-02-2009 10:16 AM

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)