Re: Brayden positive test - NOT RSS diagnosis

[Guest guest]

Brayden's mom -

I am guessing you mean that he came back postive for matUPD7. If he

is MUPD7 and he also has most of the craniofacial characteristics of

RSS, yes, he is probably undoubtedly RSS.

But do be aware that being positive for maternal UPD7 (meaning he

incorrectly got both chromosome 7s from you instead of one from mom

and one from dad) does NOT mean a diagnosis of RSS.

There are a handful of other growth disorders that also have matUPD7.

So being positive for matUPD7 is NOT a diagnosis for RSS. I just want

to make sure everyone is clear for that.

However, most children who are RSS matUPD7 have a slightly different

facial structure than other RSS children -- basically they have a more

squarish face, they lack the triangular shaped face but still have all

the other characteristics -- the bossed forehead, etc.

So if a kid mostly looks RSS but doesn't have that triangular shaped

face, a positive matUPD7 diagnosis can " lock " in that RSS diagnosis.

Hope this makes sense. Email me if you have any questions.

Salem

> We just received the rtesults of the gene testing on Brayden and

they

> came back positive for RSS. Now we dont have to just assume or

wonder

> anymore. Also would like to say thanks to for the endo suggestions

we

> are looking into them.

[Guest guest]

Hello I don't posr much. But I have a mat-upd7 boy that just turned two last

month. So if you want to ask me any Questions,matupd7 children are a little

diffrent. I only know a couple families on the list that are actually matupd7.

They are not many cases of our rarity. Just let me know. Amber- Austin 7

non-RSS, Grayson 2 RSS.

Brock wrote:Brayden's mom -

I am guessing you mean that he came back postive for matUPD7. If he

is MUPD7 and he also has most of the craniofacial characteristics of

RSS, yes, he is probably undoubtedly RSS.

But do be aware that being positive for maternal UPD7 (meaning he

incorrectly got both chromosome 7s from you instead of one from mom

and one from dad) does NOT mean a diagnosis of RSS.

There are a handful of other growth disorders that also have matUPD7.

So being positive for matUPD7 is NOT a diagnosis for RSS. I just want

to make sure everyone is clear for that.

However, most children who are RSS matUPD7 have a slightly different

facial structure than other RSS children -- basically they have a more

squarish face, they lack the triangular shaped face but still have all

the other characteristics -- the bossed forehead, etc.

So if a kid mostly looks RSS but doesn't have that triangular shaped

face, a positive matUPD7 diagnosis can " lock " in that RSS diagnosis.

Hope this makes sense. Email me if you have any questions.

Salem

> We just received the rtesults of the gene testing on Brayden and

they

> came back positive for RSS. Now we dont have to just assume or

wonder

> anymore. Also would like to say thanks to for the endo suggestions

we

> are looking into them.

[Guest guest]

The literature has consistently found about a 10% incidence rate

among RSS children, for those children born matUPD7. In our group

of families attending the convention for the last 2 years, we had

about a 15% incidence! But I am guessing that is simply because a

matUPD7 child may have difficulty getting an RSS diagnosis, and may

come to the convention to see Dr. H to get an answer.

> > We just received the rtesults of the gene testing on Brayden and

> they

> > came back positive for RSS. Now we dont have to just assume or

> wonder

> > anymore. Also would like to say thanks to for the endo

suggestions

> we

> > are looking into them.

>

>

>

>

>

[Guest guest]

Noah is also Mat-UPD7 ... and that was the genetic doctors

confirmation that he had RSS. Was the message from Jen Salem quite

awhile ago ... I have been keeping up with all the messages since I

joined last week so maybe it was before that. His face was squarer

when he was 1 or so and now has become more triangular ... I was

actually noticing that from a picture of him when he was younger. He

does have quite a few of the other characteristics too though.

Dawna

> > We just received the rtesults of the gene testing on Brayden and

> they

> > came back positive for RSS. Now we dont have to just assume or

> wonder

> > anymore. Also would like to say thanks to for the endo

suggestions

> we

> > are looking into them.

>

>

>

>

>