[PAGID] tbx-1 sequencing

[Anders Fasth]

Hi,
Even with a mutation of TBX1 the typical minor dysmorphic features are 
present such as  bit low set ears and more rounded ear, trianger upper lip, 
rounded nose tip, hooded eye lids. Without those features a TBX1 mutation 
is less likely

Also 10p has dysmorphic features.

How about a non-diGeorge etiology to the hypocalcemic seizures?
All the best
Anders Fasth
  At 18:44 2005-07-07, Christine Seroogy wrote:
>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
>
>_______________________________________________
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Anders Fasth, MD, PhD
Professor of Pediatric Immunology
Dept of Pediatrics, Göteborg University
Address: The Queen Silvia Children's Hospital
SE-416 85 Göteborg, Sweden
Tel +46-31-343 5220,
Mobile +46-70-687 5970 
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