Down Syndrome Robertsonian Translocation Genetics - USMLE Forums
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  #1  
Old 07-03-2013
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Genetics Down Syndrome Robertsonian Translocation Genetics

father is robertsonian carrier
mother is normal
child has downs
what is the risk of another child with downs ?
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Old 07-03-2013
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How can father be robertsonian carrier ? If robertsonian translocation is present then he has to have down
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Old 07-03-2013
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Quote:
Originally Posted by aman_j View Post
How can father be robertsonian carrier ? If robertsonian translocation is present then he has to have down
no, father can have robertsonian translocation without down because this is balanced translocation and there is no trisomy 21.

also, passing refrence, what is most common cardiac lesion in downs ? endocardial cushion defects or VSD or ASD ? to my surprise fa mentions ASD...
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Old 07-03-2013
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If the father has that translocation he will transmit it to all his children ... Since all his cells will have that translocation and it will replicate and get transmitted to all haploid cells .... Do tell me if you have the correct answer....cause im not to sure
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Old 07-03-2013
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You mean to say he has a robertsonian translocation of other chromosome?

Most common defects in endocardial cushion defects.... What edition FA are you using?
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Old 07-03-2013
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Is it 1 in 3? (33%)?

It's an educated guess. I'll explain myself if it's right!
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Old 04-16-2014
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please explain about alternate and adjacent segregetion
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