Re: Chromosome 12 and 16 translocation

[Guest guest]

On Apr 19, 2004, at 2:27 PM, Tina wrote:

> They

> said he has a long arm translocation between chromosme 12 and 16

Hi, this is Kathy E. My PhD is in ecology with a minor in population

genetics, from Cornell. Unfortunately chromosomal defects,

translations and deletions, etc. can happen almost anywhere in the

genome, and although some particular disturbances are common and

repeated, like the trisomy that causes Down's Syndrome, others are very

uncommon and their outcome in the phenotype therefore not well known.

This particular translocation is not even listed in the NORD (National

Organization of Rare Diseases) list. That doesn't mean it doesn't

exist-- Tina's son may be one of a kind!

The only thing I could find in a quick web search that might be related

to this is a gene called TLS-CHOP. However, it doesn't say anything

about the development of persons with this kind of genotype, only about

the fact that this translocation occurs. So in this case genetic

counseling wouldn't say much about the needs of the child, only that,

like all of our children, he needs to be treated as an individual--just

more so, in his case!

Peace,

Kathy E.

Retired--but my kids are working hard at

http://www.TheGroceryGame.com to save you money

and at http://www.heavenforanimals.com

to bring comfort when you lose a pet.

[Guest guest]

Hi Kathy

Someone very near and dear to me is a perinatologist......she, too, was

befuddled by much of what was posted.........enough said.

Hope Benny's doing great......hugs from me, and to you too!

~Karyn

Re: [ ] Chromosome 12 and 16 translocation

On Apr 19, 2004, at 2:27 PM, Tina wrote:

> They

> said he has a long arm translocation between chromosme 12 and 16

Hi, this is Kathy E. My PhD is in ecology with a minor in population

genetics, from Cornell. Unfortunately chromosomal defects,

translations and deletions, etc. can happen almost anywhere in the

genome, and although some particular disturbances are common and

repeated, like the trisomy that causes Down's Syndrome, others are very

uncommon and their outcome in the phenotype therefore not well known.

This particular translocation is not even listed in the NORD (National

Organization of Rare Diseases) list. That doesn't mean it doesn't

exist-- Tina's son may be one of a kind!

The only thing I could find in a quick web search that might be related

to this is a gene called TLS-CHOP. However, it doesn't say anything

about the development of persons with this kind of genotype, only about

the fact that this translocation occurs. So in this case genetic

counseling wouldn't say much about the needs of the child, only that,

like all of our children, he needs to be treated as an individual--just

more so, in his case!

Peace,

Kathy E.

Retired--but my kids are working hard at

http://www.TheGroceryGame.com to save you money

and at http://www.heavenforanimals.com

to bring comfort when you lose a pet.

[Guest guest]

kathy

thanks for explaining that. I was wondering what that meant. but in the end

more research needs to be done on those chromsomes?

chris

Kathleen Eickwort <Kathleen_E@...> wrote:

On Apr 19, 2004, at 2:27 PM, Tina wrote:

> They

> said he has a long arm translocation between chromosme 12 and 16

Hi, this is Kathy E. My PhD is in ecology with a minor in population

genetics, from Cornell. Unfortunately chromosomal defects,

translations and deletions, etc. can happen almost anywhere in the

genome, and although some particular disturbances are common and

repeated, like the trisomy that causes Down's Syndrome, others are very

uncommon and their outcome in the phenotype therefore not well known.

This particular translocation is not even listed in the NORD (National

Organization of Rare Diseases) list. That doesn't mean it doesn't

exist-- Tina's son may be one of a kind!

The only thing I could find in a quick web search that might be related

to this is a gene called TLS-CHOP. However, it doesn't say anything

about the development of persons with this kind of genotype, only about

the fact that this translocation occurs. So in this case genetic

counseling wouldn't say much about the needs of the child, only that,

like all of our children, he needs to be treated as an individual--just

more so, in his case!

Peace,

Kathy E.

Retired--but my kids are working hard at

http://www.TheGroceryGame.com to save you money

and at http://www.heavenforanimals.com

to bring comfort when you lose a pet.

[Guest guest]

" but in the end more research needs to be done on those chromsomes? "

I don't believe the original post was, in any way, CORRECT. No such abnormality

exists, as far as what's been medically published, anyway......

~K