[tri-med] Re: what is 4q31.1-terminal deletion?

>What is 4q31.1-terminal deletion?

>>I'm by no means an expert.......but I think this is a deletion of the  
>>>>bottom of the 4th chromosome....

Yes, it's a deletion, not a trisomy (addition), and nothing in this diagnoses
suggests mosaic either.  The q leg is missing it's end piece.  The breaking 
point is the q31.1 band.  For reference, the q leg of the #4 chromosome 
ordinarily ends with the 35.2 band.

If this family hasn't already, they should join Chromosome Deletion Outreach:   
 http://www.chromodisorder.org/  

Fawna, mom to Philina 23 yrs (PT6p & Moya Moya Syndrome)
Research Coordinator: Tracking Rare Incidence Syndromes 
(TRIS) project - We are currently enrolling all varieties of rare
trisomy, living & deceased, for the main project database.  To 
include your child's data and help update the medical literature 
please see: http://web.coehs.siu.edu/Grants/TRIS/
And to add a link for your Trisomy child's personal web page 
please see: http://www.livingwithtrisomy.org/
                  Building ___ooOOoo__ Rainbows
                       www.trisomyonline.org
                  Families Helping Families On-line

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