[tri-med] Re: Mosaicism

Hi,
I'm sure one of the others on the list can provide a more technical answer - 
our Stephen has T13 Mosaic.  We were told that a chromosome test was performed 
on him very shortly after birth and that half of his cells exhibited the 3rd 
chromosome which was the 13th.  We were told that if only a subset of the cells 
exhibits the 3rd chromosome, then it is referred to as Mosaic.

Gary (and Elizabeth) parents of Daniel (17), Michael (15), Joshua (13), Rachel 
(11), John (9), Nathan (7), Esther (5) and Stephen (1) (T13 Mosaic born 10/5/04)

Vicki Christensen wrote:

> Hello. Vicki here, mother of Luke pt14q. I have been hearing a lot about 
> mosaicism lately. My question is how can you tell if there is mosaicism? Luke 
> had 20 blood cells tested, 5 of which were fully analyzed, 15 partially 
> analyzed and 6  were imaged. My understanding is that they all showed pt14q. 
> Any recommedations on whether we should have other cells, such as his skin 
> cells tested?
> Luke's trisomy is unique in many ways, but also bc. the extra 14q is attached 
> to his 18th chromosome. The very distal end of his18th is missing, but 2 
> geneticists have told me that it is a part of the chromosome where no genes 
> are present so it is irrelevent; therefore pt14q.
>
> Any thoughts?
>
> Vicki, mom to Luke pt14q, wife to Glenn and also mom to Tanner, our beloved 
> golden retriever who can make us smile even at the lowest of times.
>                   Building ___ooOOoo__ Rainbows
>                        www.trisomyonline.org
>                   Families Helping Families On-line


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                  Building ___ooOOoo__ Rainbows
                       www.trisomyonline.org
                  Families Helping Families On-line

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