[tri-med] Re: New with questions

----- Original Message ----- 
From: <BowdenCnS@xxxxxxx>
> Ryan came into the world on October 17th.

Congratulations!!!!!!!

> Ryan has a partial trisomy 14, and from all the research I've done I can't
> seem to find anyone who has quite as large duplication as he has. His
> duplication starts from the top at p13 and ends at q 31.1.

Alex's genetic info is as follows:
46, xy/47,xy, 14q-   Mosaic
18 of 50 cells showed an additoional chromosome (14) which is deleted in the
long arm at q24.3


> I don't know how valid this
> is but our geneticist and several others have told us that they don't know
of
> any child who has survived very long with this type of trisomy.

Like with the rest of the rarer trisomies the survival rate is low. However,
MANY DO survive!

What seems to 'make the differerence' is how severely/what systems are most
affected in terms of survival. ie: serious heart issues pose more of a
threat than say deformed ears, hands or feet.

Like the rest of the population at large, each of our triers are
INDIVIDUALS. No 2 are exactly alike. Therefore, nobody (with any degree of
certainty) can say "this is what will happen, what the situation will be".



 > > Despite all of this, Ryan is a beautiful child. At first glance it's
hard to
> even tell that anything is even wrong. He makes the cutest expressions!

Awwwww!  :0)

 Michelle mom to Alex (17, partial trisomy 14 mosaic) and Molly (13)
MichiganUSA


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

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