[tri-med] Re: Partial Trisomy 5q

----- Original Message ----- 
From: "Pamela Padgett" <
> but thought amnios 100% with the DNA.

Sadly no - there are a few of us here who have had errors made with their
kids genetic testing. Alex is one. My AFP came back as high risk but somehow
that report got filed without anyone picking up the flag so no amnio was
done.

It was pretty obvious at birth that he there was something wrong. The
geneticist said it was an autosomal anomaly and bloods were done. Bloods
came back with a normal male karyotype. And his problems blamed on me - I
must be an alcoholic or drug addict (honest thats what they wrote)

It wasn't until he was 15 months old and they checked again to do a FISH for
Di-George sequence that they discovered the T-18. Of course then they wanted
to know why he was still alive..........

There is a 0.1% chance of error with karyotypes, greater if its a small
duplication or if mosaicism is involved (Alex's percentage of trsomic cells
is so high that it shouldn't have had any bearing) The explanation that I
was given for Alex's diagnosis being missed was that the blood tested wasn't
actually his - that someone mixed up the samples. One day I will get a DNA
study done of whats left of the original slide and see. (the original slide
is in too bad a condition to do anymore than a DNA test and even that may
not work)


> I didn't know if there is a gallery here for our babes or not to post or
upload.

Not an automated gallery - but if you send me the pics and a story I will
make up a page for you and add it to family page.

We can not change the wind. But we can change the sails.
~Ghandi~

Keep Looking For Rainbows!!
Karen, Mum to Alex (8 years, T-18 Mosaic)
http://members.optushome.com.au/karens

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

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