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Communication for the Heartland Regional Genetics Group

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Subject:
From:
"Troxell, Robin M." <[log in to unmask]>
Reply To:
Communication for the Heartland Regional Genetics Group <[log in to unmask]>
Date:
Mon, 20 Oct 2008 15:25:06 -0500
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Happy Monday-
I have a newborn patient with bowel obstruction and elevated IRT whose DNA studies show she is compound heterozygous for deltaF508/L1254X.  Parents of course wanting clinical correlation.  As far as I can find, the L1254X mutation has only been reported in one English patient, in a personal communication between Wallace and Tassabehji in 1993.  If anyone else has seen this mutation and can give any type of clinical correlation I would welcome it.

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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