[tri-med] Re: Genetics 104 - Testing

I'm still thing of being tested, about the other children i thing I'm going
to wait until thy are older, Taylor goes back to a geneticist on Tuesday
and= I'm going to bring it up again about the other children being tested ,
i guess for piece of mind, and it i knew and if i was a carrier and gave it
to my children , well I'm not going there it hurts to much. and i know that
we can't test there father he died when i was 5 months p.g.  Gina son Taylor
trisomy 8 mosaicism. and thanks about the mosaicism part in genetics i did
find what i was looking for thanks Gina son Taylor almost 1 years old June 5
-----Original Message-----
From: Karen Schuler <karens@xxxxxxxxxxxxxxxx>
To: Tri-med <Tri-Med@xxxxxxxxxxxxx>; Tri-Family <Tri-Family@xxxxxxxxxxxxx>
Date: Thursday, May 31, 2001 7:27 PM
Subject: [tri-med] Genetics 104 - Testing


>
>A re-post of another post that I have made
>
>>>Why do the geneticists say that most of us don't need to be tested??
>
>Generally when a baby is tested for a trisomy the cytogenetics people have
a
>fair idea of whether the trisomy is caused by a translocation or is just
the
>"freak" occurrence thing. They get this idea by how the extra chromosome
>presents itself.
>
>In most cases of "full" trisomy the extra chromosome is a whole extra
>chromosome. That is there are three 18 chromosomes (or three 13, 12, 11 etc
>etc)
>
>Now as we know a translocation can produce that extra chromosome and you
>will have a child with "full" trisomy whatever but usually in the case of a
>translocation the extra chromosome is not normally in one whole piece but
>rather the extra chromosome is normally in 2 or more pieces. When the lab
>folk see this extra chromosome in "pieces" (even though there is a whole
>extra chromsome there in all) they will suspect that one of the parents is
>the "carrier" of a balanced translocation and hence recommend testing
>because the risk of recurrence increases significantly. Now that doesn't
>mean that a translocation can't produce the "whole" extra chromosome or
that
>when a chromosome is in "pieces" that its always a balanced translocation
>its just that those situations are "less" likely.
>
>When Alex was tested the extra chromosome was a whole extra chromosome and
>so they told me that I did not need testing, the chances of it recurring or
>being the result of a translocation were minute (ie the less than 1%)
>
>Being the reader and researcher I am though it didn't take me long to find
>one single literature reference to a parent have sub-clinical T-18
mosaicism
>(that is no obvious charecteristics of T-18) but having the mosaicism
>diagnosed after repeated infertility and miscarriage problems. That was
>enough for me to worry about it for my girls (I know that I wont be having
>more children - not physically possible, though they said that about me
>having Alex LOL) So Alex's dad and I both had the tests done - they were
>"normal".
>
>Now in all the hundreds of articles out there on Trisomy I have only ever
>found two cases of undetected mosaicism "causing" problems so given those
>odds the doctors are probably right that in the majority of cases it wont
>show anything - however I agree that for peace of mind, that is if its
>worrying you, why not be tested??
>As far as cost is concerned I think that thats a crazy excuse - I mean its
>going to cost a heck of a lot more for an amnio (and most pregnant mothers
>are going to have one these days whether or not there were problems before)
>so why balk at part of that cost to give you piece of mind BEFORE you fall
>pregnant!!!
>
>Paula in your situation with dual citizenship can you have the test done in
>the UK under the national health system so that you don't have to pay??? I
>guess thats one of the real benefits here. Alex has had a number of tests
>(because of the unusualness of the mosaicism) and the doctors don't mind
>ordering them because the government is picking up the tab (and it keeps my
>questions down LOL). Its me that draws the line on him being a guinea pig,

>but if they are taking blood for some other reason I don't mind them having
>an extra few mls - I just one subject him to more skin biopsies ( he has
>enough scars and been through enough pain!!!)
>
>Another way of course folks is to get a lab interested in the research
>side - whether the extra chromosome is from the mother or the father and be
>a part of the chromosomal testing that would involve???
>
>I hope that helps some........
>
>
>                  Building ___ooOOoo__ Rainbows
>                       www.trisomyonline.org
>                  Families Helping Families On-line
>
>

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

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