[PAGID] tbx-1 sequencing

[Christine Seroogy]

Hello,

I recently evaluated a newborn term male infant for DiGeorge because of 
presentation with hypocalcemic seizures.  He has no cardiac anatomic 
abnormalities.  His ALC is over 5000 with absolute CD4 2688 and 
absolute CD8 1271.  His 22q FISH is normal.  I will send blood to 
Baylor for 10p FISH but was wondering if anyone is aware of a group 
that is looking at mutations in tbx-1?  Thank you!  Chris


Chris Seroogy, M.D.
Assistant Professor
Dept. of Pediatrics
Mail:  H4/474 CSC, Mailstop 4108
Shipping:  H4/431 CSC, Mailstop 4108
600 Highland Ave.
Madison, WI  53792
phone: 608- 263-2652
fax: 608-265-0164