Everyone: genetics issue

[Guest guest]

Everyone - I have asked Dr. H to speak to what she knows about the

latest info at the convention. However, meanwhile I also emailed the

cytogeneticist at Cedar Sinai who is working on studying SGA/RSS

children and others with asymmetry. She emailed me back that she

didn't have time right now to answer all my questions but gave me

some info. And I went to the UCLA BioMed library last week and

researched all the current published articles.

I will try to write this as easily as possible. So many of the

genetics publications are so far over my head.

We all know that 10% of the RSS kids have tested positive for UPD#7

(which means that they inherited both of their chromosome #7s from

their mom instead of one from mom and one from dad). For a long

time, it has been believed that if you tested positive for UPD#7, you

automatically had RSS.

However, since 93% of RSS kids have normal inheritance of chromosome

#7, it raises the question that maybe UPD#7 isn't actually

the " cause " of RSS, but just a possible byproduct.

There is much research right now. A new study in late 2001

entitled " Construction of a Detailed Physicaland Transcript Map of

the Candidate Region for RSS on Chromosome 17q23-q24. " WHEW!!!

Basically, they believe that they have found the " molecular tools for

the final identification of the RSS gene in 17q23-q24. " But they also

point out that this same gene area has been suggested as a point for

other diseases as well.

Then there is a study called " Evidence from Skewed X Inactiviation

for trisomy mosaicism in Silver Syndrome. " They write " as

all cases of complete matUPD7 could have arisen by trisomy rescue, it

is possible that undetected trisomy 7 mosaicism contributes toward

the phenotype of RSS, and that the matUPD7 seenin some cases is a

consequence of trisomy rescue. "

It goes on, and is so far over my head. But the bottom line, as our

geneticist explained, is that RSS is being actively studied. RSS is

absolutely genetic, no doubt about that. The question is how -

genetics is complicated - duplicate genes, markers, and all kinds of

other problems that can occur.

What is not stated yet is whether or not a person with RSS can pass

it on to their own children. Anecdotal evidence has shown that many

RSS adults have given birth to non-RSS children. But I haven't found

a single study on the subject.

The question arises when two children in the same family are

diagnosed with RSS. Is it coincidence? The luck of the draw?

Possibly inherited through the mom (since in some cases, the two

siblings have had different fathers). Unknown at this time.

However, of the 200+ RSS kids I have data or know about, I believe I

know of maybe 3 sets of siblings (not counting the set of identical

twins). And no, the remaining 197 children are not only children

(some are, of course).

Anyway. All we can say at this time is the following:

* -Silver Syndrome is genetically-based (such as Down's

Syndrome).

* The chances of a parent having 2 RSS children (if the UPD#7 tests

normal) is extremely rare.

* We don't know at this time what the inheritance issues are - what

the odds are that our RSS child will conceive an RSS child.

Hopefully, Dr. Falk from Cedars will get back to me soon and expound

on any new info in that area.

> I was told that RSS is genetic, but it can be passed down from the

> mother. That would also make it hereditary. But there are very,

> very few cases where there are a parent and child with RSS.

> Hmmmm....I guess this would be a good convention question for Dr. H.

>

> Jodi

[Guest guest]

,

Thanks for postin this.

I am a little surprised that anyone is bothering to study this. Is

it just me, or do others think that of all the anomalies that can

occur, RSS isn't so bad?! I wonder what motivates them to study

this.

Irene

> > I was told that RSS is genetic, but it can be passed down from

the

> > mother. That would also make it hereditary. But there are very,

> > very few cases where there are a parent and child with RSS.

> > Hmmmm....I guess this would be a good convention question for Dr.

H.

> >

> > Jodi

[Guest guest]

,

Thanks for postin this.

I am a little surprised that anyone is bothering to study this. Is

it just me, or do others think that of all the anomalies that can

occur, RSS isn't so bad?! I wonder what motivates them to study

this.

Irene

> > I was told that RSS is genetic, but it can be passed down from

the

> > mother. That would also make it hereditary. But there are very,

> > very few cases where there are a parent and child with RSS.

> > Hmmmm....I guess this would be a good convention question for Dr.

H.

> >

> > Jodi

[Guest guest]

Hi Irene,

I think people study this because you never know what you are going to

find. History is full of examples of people studying one thing only to

make a major discovery about something else along the way. For

example, the man trying to make a better tire invented chewing gum.

Where we would be with out that wonderful substance -- ( cleaner, I

think, well at least my shoes would be.)

I do agree, of all the genetic anomilies, RSS isn't that bad. It can

be frustrating and sometimes scary but in the big picture, I often

thank God that only has RSS.

Anyway, just my opinion. Like the guy on the radio says around here

" No one asked, just my opinion " .

Ken M

> > > I was told that RSS is genetic, but it can be passed down from

> the

> > > mother. That would also make it hereditary. But there are very,

> > > very few cases where there are a parent and child with RSS.

> > > Hmmmm....I guess this would be a good convention question for Dr.

> H.

> > >

> > > Jodi

[Guest guest]

Hi Irene,

I think people study this because you never know what you are going to

find. History is full of examples of people studying one thing only to

make a major discovery about something else along the way. For

example, the man trying to make a better tire invented chewing gum.

Where we would be with out that wonderful substance -- ( cleaner, I

think, well at least my shoes would be.)

I do agree, of all the genetic anomilies, RSS isn't that bad. It can

be frustrating and sometimes scary but in the big picture, I often

thank God that only has RSS.

Anyway, just my opinion. Like the guy on the radio says around here

" No one asked, just my opinion " .

Ken M

> > > I was told that RSS is genetic, but it can be passed down from

> the

> > > mother. That would also make it hereditary. But there are very,

> > > very few cases where there are a parent and child with RSS.

> > > Hmmmm....I guess this would be a good convention question for Dr.

> H.

> > >

> > > Jodi

[Guest guest]

Oh, you would be amazed at what people choose to study. Random tiny

little things on insects!!! But anyway - RSS does affect

approximately 1 in 100,000 individuals-- so it has generated a great

deal of interest. In addition, many of the studies that get repeated

are done by 1 of more of the same authors that have done prior

studies (people like Stanhope and Wollmann). Also, there is a great

deal of interest in determining if the ideopathic SGA kids (that 15%

of the kids born IUGR and SGA that don't achieve catch-up growth by

age 2) are also linked genetically to RSS kids.

> > > I was told that RSS is genetic, but it can be passed down from

> the

> > > mother. That would also make it hereditary. But there are

very,

> > > very few cases where there are a parent and child with RSS.

> > > Hmmmm....I guess this would be a good convention question for

Dr.

> H.

> > >

> > > Jodi

[Guest guest]

Oh, you would be amazed at what people choose to study. Random tiny

little things on insects!!! But anyway - RSS does affect

approximately 1 in 100,000 individuals-- so it has generated a great

deal of interest. In addition, many of the studies that get repeated

are done by 1 of more of the same authors that have done prior

studies (people like Stanhope and Wollmann). Also, there is a great

deal of interest in determining if the ideopathic SGA kids (that 15%

of the kids born IUGR and SGA that don't achieve catch-up growth by

age 2) are also linked genetically to RSS kids.

> > > I was told that RSS is genetic, but it can be passed down from

> the

> > > mother. That would also make it hereditary. But there are

very,

> > > very few cases where there are a parent and child with RSS.

> > > Hmmmm....I guess this would be a good convention question for

Dr.

> H.

> > >

> > > Jodi

[Guest guest]

,

thanks again for providing us with quality data.

So about 1 in 100,000 births are RSS.

Just curious, what fraction of births are the IUGR and SGA births

that don't achieve catch up growth?

A corollary to that would be what percent of the IUGR's and SGA's are

RSS, but given the other numbers, I can figure that out.

thanks again,

Steve

p.s. since we began n.g. tube feeding , he has gained an

ounce a day. (10 ounces the first 10 days - more than he gained in

the previous 2 months). He is now 8.5 months, 13 lbs, 26 " long, 17 "

head, and the happiest little guy we've ever seen.

www.infotrail.com/family

> > > > I was told that RSS is genetic, but it can be passed down

from

> > the

> > > > mother. That would also make it hereditary. But there are

> very,

> > > > very few cases where there are a parent and child with RSS.

> > > > Hmmmm....I guess this would be a good convention question for

> Dr.

> > H.

> > > >

> > > > Jodi

[Guest guest]

,

thanks again for providing us with quality data.

So about 1 in 100,000 births are RSS.

Just curious, what fraction of births are the IUGR and SGA births

that don't achieve catch up growth?

A corollary to that would be what percent of the IUGR's and SGA's are

RSS, but given the other numbers, I can figure that out.

thanks again,

Steve

p.s. since we began n.g. tube feeding , he has gained an

ounce a day. (10 ounces the first 10 days - more than he gained in

the previous 2 months). He is now 8.5 months, 13 lbs, 26 " long, 17 "

head, and the happiest little guy we've ever seen.

www.infotrail.com/family

> > > > I was told that RSS is genetic, but it can be passed down

from

> > the

> > > > mother. That would also make it hereditary. But there are

> very,

> > > > very few cases where there are a parent and child with RSS.

> > > > Hmmmm....I guess this would be a good convention question for

> Dr.

> > H.

> > > >

> > > > Jodi

[Guest guest]

,

thanks again for providing us with quality data.

So about 1 in 100,000 births are RSS.

Just curious, what fraction of births are the IUGR and SGA births

that don't achieve catch up growth?

A corollary to that would be what percent of the IUGR's and SGA's are

RSS, but given the other numbers, I can figure that out.

thanks again,

Steve

p.s. since we began n.g. tube feeding , he has gained an

ounce a day. (10 ounces the first 10 days - more than he gained in

the previous 2 months). He is now 8.5 months, 13 lbs, 26 " long, 17 "

head, and the happiest little guy we've ever seen.

www.infotrail.com/family

> > > > I was told that RSS is genetic, but it can be passed down

from

> > the

> > > > mother. That would also make it hereditary. But there are

> very,

> > > > very few cases where there are a parent and child with RSS.

> > > > Hmmmm....I guess this would be a good convention question for

> Dr.

> > H.

> > > >

> > > > Jodi