[tri-med] Re: Partial Trisomy 5q(amnio errors)

----- Original Message -----
From: "Pamela Padgett" <padgettcastle@xxxxxxxxx>
> Just more proof for me that there should be legislation passed to the
error rate of labs throughout the country so we can pick and choose.

US Alex (using the US because it gets confusing with Aussie Alex when we're
both responding to the same posts) was tested at birth and it came back
"normal".

After a year of going here and there seeking answers a ped endocrinologist
referred us back to genetics (he'd practiced genetics before changing
specialties) because "something" was ringing bells for him in that area.

So off we go and the geneticist want's to retest Alex because she didn't
"like or trust that lab" results. The first lab only tested 20 cells.

A few weeks after Alex's first birthday (we'd waited 6 weeks for the
results--standard in 1987-88) I get the phone call.

Peripheral blood: 46,xy/47xy, 14q-   MOSAIC
18 of 50 cells showed an additional chromosome (14) which is deleted in the
long arm at q24.3          And so began our introduction into the trisomy
funpark. In some ways finally KNOWING what were were dealing with made it
easier.
Jim and I both have tested genetically normal.

Pamela---good luck in your endeavors! You've not chosen an easy path and
hats off to you for fighting for your beliefs and rights (not to mention
those of others).

Michelle mom to Alex (16,partial trisomy 14 mosaic) and Molly (12)
MichiganUSA


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

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