Re: testing for mosaic Down syndrome

[Guest guest]

,

It is interesting that Jack's test said it " could not rule out

mosaicism " that would indicate to me that they suspect mosaicism. If

you have those tests on hand, you can privately email me with exactly

what they say and I can help you with it. imdsapresident@...

Typically a person who is suspected of having Down syndrome has about

20 cells of the blood tested. Of those 20 cells there are many less

that are actually looked at. Because a person with mosaic Down syndrome

can have a wide variety of percentages of affected and non-affected

cells this type of test is very inaccurate in finding the mosaicism in

the cells. We recommend that at least 50 if not 100 cells are

completely looked at. In addition to the blood, we also recommend that

the skin be tested as well because often times a person with MDS only

presents those cells in one line or the other.

We are learning a lot right now on MDS and all the affects it has on an

individual. Recently, we were told that 11-21% of individuals diagnosed

with Down syndrome are actually misdiagnosed and have mosaic Down

syndrome instead. We are still researching this information, but it is

very close to what we had suspected all along.

I do suggest that everyone look at their Karyotypes. Because it happens

often where a person has mosaic Down syndrome and the doctor just told

the parents that it was T21. Also, if your child does not have strong

physical characteristics, or did when they were a baby but you are

finding that those characteristics are fading with time, it is very

likely that your child has MDS.

Kristy Colvin

IMDSA President

www.imdsa.com

>

> Does anyone know what the tests are?? We had a genetic test run

> after Jack was born but, it says that it only tested for T21 and

> could not rule out mosaicism. It was a blood test only. Should we

> ask for more?

> Thanks, Z.

[Guest guest]

Hi,

My son got tested at birth but I think

only 20 or so were tested and they all had the t-21 in those cells. I

didn’t know prenatally, no soft markers showed up. I do feel that

his features are not very strong. I mean an expert can tell he has downs

and he is “short” but I am wondering if it is worth getting

retested. What would happen if he does have mosaic versus the normal t21.

His features were very mild even from birth. I attached a pic of

him.

Thanks!

Re: testing for mosaic Down syndrome

,

It is interesting that Jack's test said it " could not rule out

mosaicism " that would indicate to me that they suspect mosaicism. If

you have those tests on hand, you can privately email me with exactly

what they say and I can help you with it. imdsapresidentimdsa

Typically a person who is suspected of having Down syndrome has about

20 cells of the blood tested. Of those 20 cells there are many less

that are actually looked at. Because a person with mosaic Down syndrome

can have a wide variety of percentages of affected and non-affected

cells this type of test is very inaccurate in finding the mosaicism in

the cells. We recommend that at least 50 if not 100 cells are

completely looked at. In addition to the blood, we also recommend that

the skin be tested as well because often times a person with MDS only

presents those cells in one line or the other.

We are learning a lot right now on MDS and all the affects it has on an

individual. Recently, we were told that 11-21% of individuals diagnosed

with Down syndrome are actually misdiagnosed and have mosaic Down

syndrome instead. We are still researching this information, but it is

very close to what we had suspected all along.

I do suggest that everyone look at their Karyotypes. Because it happens

often where a person has mosaic Down syndrome and the doctor just told

the parents that it was T21. Also, if your child does not have strong

physical characteristics, or did when they were a baby but you are

finding that those characteristics are fading with time, it is very

likely that your child has MDS.

Kristy Colvin

IMDSA President

www.imdsa.com

>

> Does anyone know what the tests are?? We had a genetic test run

> after Jack was born but, it says that it only tested for T21 and

> could not rule out mosaicism. It was a blood test only. Should we

> ask for more?

> Thanks, Z.

[Guest guest]

What a cutie!;-)

KathyR

From: Down Syndrome Treatment [mailto:Down Syndrome Treatment ] On Behalf Of Tami

Sent: Tuesday, December 12, 2006

7:54 AM

Down Syndrome Treatment

Subject: RE:

Re: testing for mosaic Down syndrome

Hi,

My son got tested at birth but I think only 20 or so were tested

and they all had the t-21 in those cells. I didn’t know prenatally,

no soft markers showed up. I do feel that his features are not very

strong. I mean an expert can tell he has downs and he is

“short” but I am wondering if it is worth getting retested.

What would happen if he does have mosaic versus the normal t21. His

features were very mild even from birth. I attached a pic of him.

Thanks!

-----Original

Message-----

From: Down Syndrome Treatment

[mailto:Down Syndrome Treatment ]

On Behalf Of Kristy Colvin

Sent: Monday, December 11, 2006

10:32 PM

Down Syndrome Treatment

Subject:

Re: testing for mosaic Down syndrome

,

It is interesting that Jack's test said it " could not rule out

mosaicism " that would indicate to me that they suspect mosaicism. If

you have those tests on hand, you can privately email me with exactly

what they say and I can help you with it. imdsapresidentimdsa

Typically a person who is suspected of having Down syndrome has about

20 cells of the blood tested. Of those 20 cells there are many less

that are actually looked at. Because a person with mosaic Down syndrome

can have a wide variety of percentages of affected and non-affected

cells this type of test is very inaccurate in finding the mosaicism in

the cells. We recommend that at least 50 if not 100 cells are

completely looked at. In addition to the blood, we also recommend that

the skin be tested as well because often times a person with MDS only

presents those cells in one line or the other.

We are learning a lot right now on MDS and all the affects it has on an

individual. Recently, we were told that 11-21% of individuals diagnosed

with Down syndrome are actually misdiagnosed and have mosaic Down

syndrome instead. We are still researching this information, but it is

very close to what we had suspected all along.

I do suggest that everyone look at their Karyotypes. Because it happens

often where a person has mosaic Down syndrome and the doctor just told

the parents that it was T21. Also, if your child does not have strong

physical characteristics, or did when they were a baby but you are

finding that those characteristics are fading with time, it is very

likely that your child has MDS.

Kristy Colvin

IMDSA President

www.imdsa.com

>

> Does anyone know what the tests are?? We had a genetic test run

> after Jack was born but, it says that it only tested for T21 and

> could not rule out mosaicism. It was a blood test only. Should we

> ask for more?

> Thanks, Z.

[Guest guest]

hi, tami,

so cute!!

-- RE: Re: testing for mosaic Down syndrome

Hi,

My son got tested at birth but I think only 20 or so were tested and they all had the t-21 in those cells. I didn’t know prenatally, no soft markers showed up. I do feel that his features are not very strong. I mean an expert can tell he has downs and he is “short” but I am wondering if it is worth getting retested. What would happen if he does have mosaic versus the normal t21. His features were very mild even from birth. I attached a pic of him.

Thanks!

-----Original Message-----From: Down Syndrome Treatment [mailto:Down Syndrome Treatment ] On Behalf Of Kristy ColvinSent: Monday, December 11, 2006 10:32 PMDown Syndrome Treatment Subject: Re: testing for mosaic Down syndrome

,It is interesting that Jack's test said it "could not rule out mosaicism" that would indicate to me that they suspect mosaicism. If you have those tests on hand, you can privately email me with exactly what they say and I can help you with it. imdsapresidentimdsa Typically a person who is suspected of having Down syndrome has about 20 cells of the blood tested. Of those 20 cells there are many less that are actually looked at. Because a person with mosaic Down syndrome can have a wide variety of percentages of affected and non-affected cells this type of test is very inaccurate in finding the mosaicism in the cells. We recommend that at least 50 if not 100 cells are completely looked at. In addition to the blood, we also recommend that the skin be tested as well because often times a person with MDS only presents those cells in one line or the other.We are learning a lot right now on MDS and all the affects it has on an individual. Recently, we were told that 11-21% of individuals diagnosed with Down syndrome are actually misdiagnosed and have mosaic Down syndrome instead. We are still researching this information, but it is very close to what we had suspected all along. I do suggest that everyone look at their Karyotypes. Because it happens often where a person has mosaic Down syndrome and the doctor just told the parents that it was T21. Also, if your child does not have strong physical characteristics, or did when they were a baby but you are finding that those characteristics are fading with time, it is very likely that your child has MDS.Kristy ColvinIMDSA Presidentwww.imdsa.com >> Does anyone know what the tests are?? We had a genetic test run > after Jack was born but, it says that it only tested for T21 and > could not rule out mosaicism. It was a blood test only. Should we > ask for more?> Thanks, Z.

[Guest guest]

Tami,

He is sooooo cute! He looks really good If you hadn't told me, I wouldn't think that he has DS. I find the same....people in the medical field and with experience see the DS in Reece but usually people don't. I see it more when Reece is tired. His little cheeks seem to droop more and that tongue goes out.

How old is Collin? It looks like his muscle tone is good! Reece is 20 months old and not crawling or walking. I think we're getting close though!!!!

Judy

[DownSyndromeInfoEx change] Re: testing for mosaic Down syndrome

,It is interesting that Jack's test said it "could not rule out mosaicism" that would indicate to me that they suspect mosaicism. If you have those tests on hand, you can privately email me with exactly what they say and I can help you with it. imdsapresident@ imdsa.com Typically a person who is suspected of having Down syndrome has about 20 cells of the blood tested. Of those 20 cells there are many less that are actually looked at. Because a person with mosaic Down syndrome can have a wide variety of percentages of affected and non-affected cells this type of test is very inaccurate in finding the mosaicism in the cells. We recommend that at least 50 if not 100 cells are completely looked at. In addition to the blood, we also recommend that the skin be tested as well

because often times a person with MDS only presents those cells in one line or the other.We are learning a lot right now on MDS and all the affects it has on an individual. Recently, we were told that 11-21% of individuals diagnosed with Down syndrome are actually misdiagnosed and have mosaic Down syndrome instead. We are still researching this information, but it is very close to what we had suspected all along. I do suggest that everyone look at their Karyotypes. Because it happens often where a person has mosaic Down syndrome and the doctor just told the parents that it was T21. Also, if your child does not have strong physical characteristics, or did when they were a baby but you are finding that those characteristics are fading with time, it is very likely that your child has MDS.Kristy ColvinIMDSA Presidentwww.imdsa.com >> Does anyone know what the tests are?? We had a genetic test run > after Jack was born but, it says that it only tested for T21 and > could not rule out mosaicism. It was a blood test only. Should we > ask for more?> Thanks, Z.

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[Guest guest]

Collin

is 22 months and cruising and crawling too. They both just started . He army

crawled for the longest time.

[DownSyndromeInfoEx

change] Re: testing for mosaic Down syndrome

,

It is interesting that Jack's test said it " could not rule out

mosaicism " that would indicate to me that they suspect mosaicism. If

you have those tests on hand, you can privately email me with exactly

what they say and I can help you with it. imdsapresident@

imdsa.com

Typically a person who is suspected of having Down syndrome has about

20 cells of the blood tested. Of those 20 cells there are many less

that are actually looked at. Because a person with mosaic Down syndrome

can have a wide variety of percentages of affected and non-affected

cells this type of test is very inaccurate in finding the mosaicism in

the cells. We recommend that at least 50 if not 100 cells are

completely looked at. In addition to the blood, we also recommend that

the skin be tested as well because often times a person with MDS only

presents those cells in one line or the other.

We are learning a lot right now on MDS and all the affects it has on an

individual. Recently, we were told that 11-21% of individuals diagnosed

with Down syndrome are actually misdiagnosed and have mosaic Down

syndrome instead. We are still researching this information, but it is

very close to what we had suspected all along.

I do suggest that everyone look at their Karyotypes. Because it happens

often where a person has mosaic Down syndrome and the doctor just told

the parents that it was T21. Also, if your child does not have strong

physical characteristics, or did when they were a baby but you are

finding that those characteristics are fading with time, it is very

likely that your child has MDS.

Kristy Colvin

IMDSA President

www.imdsa.com

>

> Does anyone know what the tests are?? We had a genetic test run

> after Jack was born but, it says that it only tested for T21 and

> could not rule out mosaicism. It was a blood test only. Should we

> ask for more?

> Thanks, Z.

Need a quick answer? Get one in minutes from people

who know. Ask your question on

Answers.

[Guest guest]

I am sorry, I wasn't able to view the picture because I get emails

from this group on a digest. (too many emails, too little time lol)

You can send it to my email address if you like

imdsapresident@...

We are currently working with a lot of researchers to discover the

differences in MDS compared to Ds. Currently, we have found that

people with MDS have a different speech delay than those with Ds.

When the research is finished, we hopefully will be able to come up

with a therapy that will help this specific speech problem.

That is just one difference between MDS and Ds. Right now, because we

have so little research it is hard to say how much it matters by

knowing. As you may know, MDS happens differently than Ds. (mds

happens after conception) so this may give us more information on

what is different and what is the same.

I do get the question a lot. " What does it matter if I know which

kind of Down syndrome he/she has? " My response...I guess it depends

on the person since right now we do not have any firm things that you

can do differently with your child in terms of therapy or education.

Personally, for me, I just am the type of person who wants to

know " exactly " what my son has. Especially when it may make a

difference later on after all of our research is complete. Right now

we are working with a lot of researchers to get more information.

Another reason to know for sure if your child has MDS or Ds is

because we have such inaccurate numbers that the research that is

being done for T21 and MDS is not as accurate as it could be.

I hope this helps

Kristy

www.imdsa.com

>

> Hi,

> My son got tested at birth but I think only 20 or so were tested and

> they all had the t-21 in those cells. I didn't know prenatally, no

soft

> markers showed up. I do feel that his features are not very

strong. I

> mean an expert can tell he has downs and he is " short " but I am

> wondering if it is worth getting retested. What would happen if he

does

> have mosaic versus the normal t21. His features were very mild even

> from birth. I attached a pic of him.

>

>

>

> Thanks!

>

>

>

> Re: testing for mosaic Down

syndrome

>

>

>

> ,

> It is interesting that Jack's test said it " could not rule out

> mosaicism " that would indicate to me that they suspect mosaicism.

If

> you have those tests on hand, you can privately email me with

exactly

> what they say and I can help you with it. imdsapresident@

> <mailto:imdsapresident%40imdsa.com> imdsa.com

>

> Typically a person who is suspected of having Down syndrome has

about

> 20 cells of the blood tested. Of those 20 cells there are many less

> that are actually looked at. Because a person with mosaic Down

syndrome

> can have a wide variety of percentages of affected and non-affected

> cells this type of test is very inaccurate in finding the mosaicism

in

> the cells. We recommend that at least 50 if not 100 cells are

> completely looked at. In addition to the blood, we also recommend

that

> the skin be tested as well because often times a person with MDS

only

> presents those cells in one line or the other.

>

> We are learning a lot right now on MDS and all the affects it has

on an

> individual. Recently, we were told that 11-21% of individuals

diagnosed

> with Down syndrome are actually misdiagnosed and have mosaic Down

> syndrome instead. We are still researching this information, but it

is

> very close to what we had suspected all along.

>

> I do suggest that everyone look at their Karyotypes. Because it

happens

> often where a person has mosaic Down syndrome and the doctor just

told

> the parents that it was T21. Also, if your child does not have

strong

> physical characteristics, or did when they were a baby but you are

> finding that those characteristics are fading with time, it is very

> likely that your child has MDS.

>

> Kristy Colvin

> IMDSA President

> www.imdsa.com