[tri-med] Re: test results

>>The only thing the geneticist told us was that Annette had
>>full trisomy 18 and that's it.

>1. Get a copy of the chromosome analysis from the geneticist.
>2. Put that info out here and people can help explain it to you.
>(I didn't realize that Alex was a partial until Karen pointed it
>out after me typing out the report info and Fawna confirmed).

The term 'Full' isn't usually an official medical report verbiage.
It tends to be used by people as a quick way of expressing that
it's a whole extra chromosome, and found in every body cell (or a
non mosaic situation).  And the 18th isn't one of the 5 chromosomes that can
be involved in a Robertsonian Translocation either.  So
based on what the geneticist told you, it sounds like Annette had
a pure trisomy 18 (Edward's Syndrome).   If you do get that report,
a female full 18 karyotype should look something like: 47XX,dup(18).
But if there's the letter q or p after the 18, or another set of ()'s with
letters & #'s in it, or the word mosaic (possible abbreviated),
then it's not a 'full 18'.

Fawna, Research coordinator TRIS Project, mom to
Thom & Rhonda, Lara & Brian, & Philina 26yrs(PT6p
& Moya Moya Syndrome), Escondido, CA USA
http://home.mindspring.com/~fawna33/




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

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