Mosaic Down syndrome ?

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Forum -> Children's Health

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amother

Thu, Jun 11 2020, 4:38 am

How is this diagnosed? We were told microarray doesn’t detect mosaic forms. Baby is already born.

Surrendered

Thu, Jun 11 2020, 6:42 am

Theres a test they can take to test mosiacism.
Did you just have a special baby?

happyone

Thu, Jun 11 2020, 7:40 am

Chromosome testing will usually identify mosaicism, in some instances it wont. If they still suspect they recommend a skin biopsy .
Hatzlocha!

amother

Chartreuse

Thu, Jun 11 2020, 7:42 am

In order to detect mosaicism on a blood test, it has to be present in the blood. It's possible for a person to be mosaic in other tissues but not in blood. You can never completely rule out mosaicism because you're not going to test every tissue.
If you don't mind giving a little more detail about your situation, we might be able to give you more relevant information.

amother

Thu, Jun 11 2020, 10:46 am

Thanks for your answers. My ‘baby’ actually is already a toddler and globally delayed. Facial features are ‘syndromic.’ More pronounced as child grows. Delays are also more obvious with time. Doctors don’t suspect Down syndrome but I’ve been wondering. They think it’s probably something else but don’t know what. There’s a genetic app I found that analyzes photos that I wish so much I could use just to get some possible leads, but you need to be a doctor to even make an account.

amother

Lime

Thu, Jun 11 2020, 11:40 am

Edited my comment because checked and it's not hereditary

Last edited by amother on Thu, Jun 11 2020, 1:52 pm; edited 1 time in total

Sunny Days

Thu, Jun 11 2020, 1:27 pm

amother [ OP ] wrote:

Have you seen a geneticist? They can’t always find the answers, but they’re a very helpful tool in eliminating different diagnosis.
If you’re in NY Dr. Pappas (NYU) is amazing

ETA, if you’ve gone down the geneticist route already and still looking for answers, there’s an amazing site SWAN (syndromes without a name) that may be helpful.
Good luck

naomi2

Thu, Jun 11 2020, 4:47 pm

I second the genetecist idea. They have the knowledge and tests to be able to determine if there is a genetic component and what syndrome, if any, he has.
Would you want to list other physical or behavioral differences, maybe someone here can help a little?

flmommy

Thu, Jun 11 2020, 5:11 pm

Can you ask/beg your doctor to use the app for you?

amother

Pewter

Thu, Jun 11 2020, 5:56 pm

Have you done the microarray yet? It can reveal a tremendous amount.
I’ve looked into 2 geneticists, Dr. Kronn (westchester) and Dr. Chung (Columbia)

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