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Re: UPD7 Question

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Hi ,

I'm not sure what the others will say about this but my thoughts are

that it is not necessary, but if you have the test done and it comes

back positive then you know 100% that you child has RSS.

le, mom to:

Shye 9, Brock 7, and Coby(rss) & Carlee 1

Coby's latest - 20 lbs and 30 inches -Peptiman Jr. and Humatrope GH

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le - I am sorry to say that your email is incorrect. A

positive test for matUPD7 does NOT mean your child definitely has

RSS. Many other similar growth disorders ALSO have children with

matUPD7. All it does is tell you that your child received two

chromosomes from their mother, which research is indicating probably

is connected to stature somehow. A child can be matUPD7 and have a

DIFFERENT disorder.

And 90% of the children with RSS test negative for RSS. Why should

someone do the test then? My own personal feeling is twofold.

First of all, if you have a child with short stature, etc. and

doctors simply can't figure out why, and there is some discussion

about whether they are " normal short " -- a matUPD7 positive result

would indicate a genetic anomaly and undoubtedly qualify the child

for growth hormone.

Remember that most matUPD7 children that are RSS too have slightly

different facial looks -- they do not typically have the triangular

shaped face, but a more boxy face (I will try and include about 6-7

kids in the Guidebook that are matUPD7 so parents can see the

difference). But this difference in facial look can make diagnosis

difficult.

The second reason to do the test is that someday genetics may be

more advanced, so that the fact that your child is positive or

negative, it may say something with regards to their own

childbearing. We just don't know right now.

Sorry! Salem

> Hi ,

>

> I'm not sure what the others will say about this but my thoughts

are

> that it is not necessary, but if you have the test done and it

comes

> back positive then you know 100% that you child has RSS.

>

> le, mom to:

> Shye 9, Brock 7, and Coby(rss) & Carlee 1

> Coby's latest - 20 lbs and 30 inches -Peptiman Jr. and Humatrope GH

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  • 1 month later...

,

As you can see, I'm way behind on my reading of this post. These

e-maiils about UPD7 are dated from October, but we just got back from our

yearly visit to the Genetics Clinic, and I wanted to add something I learned

about UPD7. (However, you probably know this already.) The geneticist that saw

this time, Dr. kson, informed me that developmental delays

and autistic-like tendencies are not uncommon in children with UPD7, RSS or

not. I should have asked where he got his research from, because after I catch

up on a few of the `RSS postings, I plan on researching UPD7 a little more

myself.

Sincerely,

Otto-Hainault

mother of

Cuilty `

``le - I am sorry to say that your email is incorrect. A

positive test for matUPD7 does NOT mean your child definitely has

RSS. Many other similar growth disorders ALSO have children with

matUPD7. All it does is tell you that your child received two

chromosomes from their mother, which research is indicating probably

is connected to stature somehow. A child can be matUPD7 and have a

DIFFERENT disorder.

And 90% of the children with RSS test negative for RSS. Why should

someone do the test then? My own personal feeling is twofold.

First of all, if you have a child with short stature, etc. and

doctors simply can't figure out why, and there is some discussion

about whether they are " normal short " -- a matUPD7 positive result

would indicate a genetic anomaly and undoubtedly qualify the child

for growth hormone.

Remember that most matUPD7 children that are RSS too have slightly

different facial looks -- they do not typically have the triangular

shaped face, but a more boxy face (I will try and include about 6-7

kids in the Guidebook that are matUPD7 so parents can see the

difference). But this difference in facial look can make diagnosis

difficult.

The second reason to do the test is that someday genetics may be

more advanced, so that the fact that your child is positive or

negative, it may say something with regards to their own

childbearing. We just don't know right now.

Sorry! Salem

> Hi ,

>

> I'm not sure what the others will say about this but my thoughts

are

> that it is not necessary, but if you have the test done and it

comes

> back positive then you know 100% that you child has RSS.

>

> le, mom to:

> Shye 9, Brock 7, and Coby(rss) & Carlee 1

> Coby's latest - 20 lbs and 30 inches -Peptiman Jr. and Humatrope GH

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what guide book are you refering to and how do i get it?

Re: Re: UPD7 Question

>

> ,

> As you can see, I'm way behind on my reading of this post. These

e-maiils about UPD7 are dated from October, but we just got back from our

yearly visit to the Genetics Clinic, and I wanted to add something I learned

about UPD7. (However, you probably know this already.) The geneticist that

saw this time, Dr. kson, informed me that developmental

delays and autistic-like tendencies are not uncommon in children with UPD7,

RSS or not. I should have asked where he got his research from, because

after I catch up on a few of the `RSS postings, I plan on researching UPD7

a little more myself.

> Sincerely,

>

Otto-Hainault

> mother of

Cuilty `

``le - I am sorry to say that your email is incorrect. A

> positive test for matUPD7 does NOT mean your child definitely has

> RSS. Many other similar growth disorders ALSO have children with

> matUPD7. All it does is tell you that your child received two

> chromosomes from their mother, which research is indicating probably

> is connected to stature somehow. A child can be matUPD7 and have a

> DIFFERENT disorder.

>

> And 90% of the children with RSS test negative for RSS. Why should

> someone do the test then? My own personal feeling is twofold.

> First of all, if you have a child with short stature, etc. and

> doctors simply can't figure out why, and there is some discussion

> about whether they are " normal short " -- a matUPD7 positive result

> would indicate a genetic anomaly and undoubtedly qualify the child

> for growth hormone.

>

> Remember that most matUPD7 children that are RSS too have slightly

> different facial looks -- they do not typically have the triangular

> shaped face, but a more boxy face (I will try and include about 6-7

> kids in the Guidebook that are matUPD7 so parents can see the

> difference). But this difference in facial look can make diagnosis

> difficult.

>

> The second reason to do the test is that someday genetics may be

> more advanced, so that the fact that your child is positive or

> negative, it may say something with regards to their own

> childbearing. We just don't know right now.

>

> Sorry! Salem

>

>

>

>

> > Hi ,

> >

> > I'm not sure what the others will say about this but my thoughts

> are

> > that it is not necessary, but if you have the test done and it

> comes

> > back positive then you know 100% that you child has RSS.

> >

> > le, mom to:

> > Shye 9, Brock 7, and Coby(rss) & Carlee 1

> > Coby's latest - 20 lbs and 30 inches -Peptiman Jr. and Humatrope GH

>

>

>

>

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is correct. I have always hesitated to post things about

cognitive levels, because I worry that parents of the youngest

children will start worrying, and looking for things.

matUPD7 children who have RSS are usually the most MILD in feature

phenotype, but have the more severe in

cognitive/learning/developmental problems. And as writes,

this goes for uniparental disomy of other chromosomes related to

other disorders as well.

Salem

> > Hi ,

> >

> > I'm not sure what the others will say about this but my thoughts

> are

> > that it is not necessary, but if you have the test done and it

> comes

> > back positive then you know 100% that you child has RSS.

> >

> > le, mom to:

> > Shye 9, Brock 7, and Coby(rss) & Carlee 1

> > Coby's latest - 20 lbs and 30 inches -Peptiman Jr. and Humatrope

GH

>

>

>

>

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Okay I'm sure this has been asked and it was probably

me who asked but what the hell I'll ask again and this

time it will stick in my head.

Is it necessary to get the UPD7 test done? and if

not, what is the benefit or reason of getting it done?

Thanks

B - running to FED EX to send in donations

to get there for Monday!

4 3/4 RSS and Kelli 2 NON RSS

--- Salem wrote:

>

> is correct. I have always hesitated to post

> things about

> cognitive levels, because I worry that parents of

> the youngest

> children will start worrying, and looking for

> things.

>

> matUPD7 children who have RSS are usually the most

> MILD in feature

> phenotype, but have the more severe in

> cognitive/learning/developmental problems. And as

> writes,

> this goes for uniparental disomy of other

> chromosomes related to

> other disorders as well.

>

> Salem

>

>

> > > Hi ,

> > >

> > > I'm not sure what the others will say about this

> but my thoughts

> > are

> > > that it is not necessary, but if you have the

> test done and it

> > comes

> > > back positive then you know 100% that you child

> has RSS.

> > >

> > > le, mom to:

> > > Shye 9, Brock 7, and Coby(rss) & Carlee 1

> > > Coby's latest - 20 lbs and 30 inches -Peptiman

> Jr. and Humatrope

> GH

> >

> >

> >

> >

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