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Communication for the Heartland Regional Genetics Group

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Communication for the Heartland Regional Genetics Group <[log in to unmask]>
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Mon, 1 Dec 2008 09:50:48 -0600
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Communication for the Heartland Regional Genetics Group <[log in to unmask]>
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"Troxell, Robin M." <[log in to unmask]>
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Calling all CF experts (Steve Keiles, this means you):
 
I have a prenatal couple in which the father is a carrier of the L1254X mutation, and the mother is a carrier of the M470V variant, and is 7T/9T.  Father's polyT status not tested yet.  From my reading, individuals with the M470V in cis with 5T can have CBAVD, chronic sinusitis, and CF-like lung disease.  Worst case scenario if the fetus is L1254X/M470V, do I need to know if dad has 5T, would it in trans with the M470V cause a problem?  
 
Thanks!
Robin
************************************
Robin M. Troxell, MS, CGC
Genetic Counselor
University of Missouri Department of Child Health
Mercy St. John's Hospital (Springfield, MO)
(p) 417-820-9839
(f) 417-820-3720
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"This year, or this month, or, more likely, this very day, we have failed to practise ourselves the kind of behaviour we expect from other people."  -- C.S. Lewis --

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