Tuesday, January 5, 2010

Down syndrome update

Thanks to Lacey, I now know that I was wrong about the types of Down syndrome. I've corrected the posts below. All Down syndrome is Trisomy 21. The 3 types are Nondisjunction, Translocation and Mosaicism. I have a call into the doctor's office to find out what type Lillie has (again). Apparently the nurse I spoke to before doesn't have a clue what she's talking about!!

Update: I looked at the report when we were at Dr. C's last week. It doesn't say which type, but it says that all cells have the extra 21st chromosome, which rules out Mosaicism, and it doesn't say that the 21st chromosome is linked to another chromosome, which rules out Translocation. So Lillie has Nondisjuction Trisomy 21...the most common form of Down syndrome. Now we finally know!


Lacey said...

What a dumb nurse. We have an appointment finally with genetics in a couple of weeks because Jax has translocation, which is quite rare, and usually is inherited. So I'm anxious to talk to the genetisists about him!

ArtistMom said...

What's worse is the dumb nurse is at the genetic's office!

Bethany said...


You are correct in that there are 3 types! My bio daughter has translocation and my adopted daughter has plain ole non-disjunction. :)

A Lady Called Amy said...

Your baby is gorgeous! My son was born 9/21/09, so our babies are very close in age! I hope things are going well with you. Take care!