Headline made me chuckle :)

MU-TANT!

What kind of shiat is this? Who submitted this?

tl;dr

long story short, she still doesn't know why she has a penis.

"she is likely to end up back here, where we can make an embryo test-tube-baby style, grow it out to 200 or 300 cells, then take a cell out and test it to make sure there that it's normal and balanced."

You know...test it out. Drive it around the block a bit, really peg the RPM...

Maebe she's a test tube baby.

tuna fingers: What kind of shiat is this? Who submitted this?

tl;dr

Summary for the tl;dr impaired:

Child is born with a "balanced chromosomal translocation" where two of her chromosomes have broken and swapped with one another. Often translocations can lead to missing chromosomal sequence (DNA) at the breakpoints which can lead to some serious medical conditions. Though you'd be surprised to find out how many people walk around with balanced translocations and never find out -- sounds as if her parents had an amniocentesis so found out ahead of time and chose not to have an abortion.

Fast-forward 16 years: fertility clinic which can now test single cells from embryos for these kinds of abnormalities offers to help young woman figure out how much of her chromosomes were lost in the translocation and if she has anything to 'worry about'.

She does an assay and finds out that she's not missing anything (or not much).

However, article points out that she'll have a hard time having kids because there's a strong chance that any embryo she tries to make naturally will end up with some of the swapped chromosomes along with her partner's normal chromosomes, leading to abnormal embryos.

GranoblasticMan: WRONG!

She's going to have trouble conceiving because God is angry at her for being a whore.

/ Teach the controversy


Dude, she's 16.

I gotta go with the Weeners on the page.
Eugenics is alive and profitable in NJ.

It's cool that she can sort out her DNA, and cooler that her parents resisted the "professional" opinion that she was probably broken, so better abort.
Especially when they still (16 years later) don't exactly know what this chromosome brake actually means.

sno man: I gotta go with the Weeners on the page.
Eugenics is alive and profitable in NJ.


not eugenics -- it's just preimplantation genetic diagnosis (new window) (PGS or PGD)


It's cool that she can sort out her DNA, and cooler that her parents resisted the "professional" opinion that she was probably broken, so better abort.
Especially when they still (16 years later) don't exactly know what this chromosome brake actually means.

Probably doesn't "mean" anything -- some translocations are more common than others but some are just random. Some lead to common developmental disorders too.

in fact adults who are otherwise normal can suffer from new translocations -- CML ( leukemia) has a translocated chromosome called the Philadelphia chromosome -- links together two genes called bcr-abl where the chromosome break links together a common work-horse gene with a gene that will allow a cell to resist cell death.

Kind of like this:

"I'm so glad we met."

+

"I'm so sorry you fell and broke your wrist."
+
break and anneal

=

"I'm so glad you fell and broke your wrist."

DO NOT WANT Poster Girl: sno man: I gotta go with the Weeners on the page.
Eugenics is alive and profitable in NJ.


not eugenics -- it's just preimplantation genetic diagnosis (new window) (PGS or PGD)


It's cool that she can sort out her DNA, and cooler that her parents resisted the "professional" opinion that she was probably broken, so better abort.
Especially when they still (16 years later) don't exactly know what this chromosome brake actually means.

Probably doesn't "mean" anything -- some translocations are more common than others but some are just random. Some lead to common developmental disorders too.

in fact adults who are otherwise normal can suffer from new translocations -- CML ( leukemia) has a translocated chromosome called the Philadelphia chromosome -- links together two genes called bcr-abl where the chromosome break links together a common work-horse gene with a gene that will allow a cell to resist cell death.

Kind of like this:

"I'm so glad we met."

+

"I'm so sorry you fell and broke your wrist."
+
break and anneal

=

"I'm so glad you fell and broke your wrist."

I'm with you as far as knowledge is power goes, but when you are advising couples to terminate based on genetic information that you do not yet understand yourself. I have a bit of an issue with that. It's a very short slippery slope to the E word.

Don't misunderstand I'm all over pro-choice. My wife and I have had to make this very choice. But with way more concrete information...

sno man: I'm with you as far as knowledge is power goes, but when you are advising couples to terminate based on genetic information that you do not yet understand yourself. I have a bit of an issue with that. It's a very short slippery slope to the E word.

Don't misunderstand I'm all over pro-choice. My wife and I have had to make this very choice. But with way more concrete information...

Where did you get that I was at all advising couples to terminate (not)? Unless you meant "you" there in a general way.

No doctor says "I advise you to terminate" unless it's something catastrophically bad.

Most doctors would say in the face of limited information, "Your unborn child has a genetic malformation that may or may not lead to a lifetime of disability. We're not sure because we do not know the extent of your child's specific aberration from the current technologies, but we do know that children with the same aberration as your child have a 50 percent chance of being born malformed or miscarrying. It's up to you to weigh the decisions on your treatment."

That's the realistic way doctors approach the subject when there's a grey area.

DO NOT WANT Poster Girl: sno man: I'm with you as far as knowledge is power goes, but when you are advising couples to terminate based on genetic information that you do not yet understand yourself. I have a bit of an issue with that. It's a very short slippery slope to the E word.

Don't misunderstand I'm all over pro-choice. My wife and I have had to make this very choice. But with way more concrete information...

Where did you get that I was at all advising couples to terminate (not)? Unless you meant "you" there in a general way.

No doctor says "I advise you to terminate" unless it's something catastrophically bad.

Most doctors would say in the face of limited information, "Your unborn child has a genetic malformation that may or may not lead to a lifetime of disability. We're not sure because we do not know the extent of your child's specific aberration from the current technologies, but we do know that children with the same aberration as your child have a 50 percent chance of being born malformed or miscarrying. It's up to you to weigh the decisions on your treatment."

That's the realistic way doctors approach the subject when there's a grey area.

sorry about the mixed "you"s.
My take on the article was that this clinic (at least 16 years ago) was all over (advising) terminating anything that wasn't perfect. And that they weren't sure how just fine some of the not perfect were...

Samwise Gamgee: Julia was born with a "balanced translocation," which occurs when a collection of genes, called a chromosome, breaks, and a portion of it reattaches to a different chromosome. When that happens, genetic matter may be lost. Julia's goal was to find out whether the two affected chromosomes lost anything vital that would compromise her health.

...which is farking fascinating, and something I've never heard of, which led me on an Internet search to research more about it.

So, yeah, anyway. Neat.

/And that's all I have to say about that

It's one of several ways nature ensures something different happens. Sometimes the product survives and gives rise to a surprisingly stable and unique individual. Sometimes the little one just dies or is incapable of reproducing. Ergo:

1) how can we control it and force it to make our offspring better
2) how can we prevent deformities upon detection
3) how can we repair the damage that is present

In order from probably least costly to most.

Bonzo_1116: sno man:
sorry about the mixed "you"s.
My take on the article was that this clinic (at least 16 years ago) was all over (advising) terminating anything that wasn't perfect. And that they weren't sure how just fine some of the not perfect were...

It's a fertility clinic, so what they are talking about screening is embryos before they even implant them. Sadly, 16 years ago they couldn't see this sort of thing until well after implant. It's different now, they can check in a timely fashion before they even get to that.

. When they do in-vitro fertilization, typically more than one eggs gets fertilized in the tube with the sperms....So what the doc is talking about is growing up the embyros they make this way, and checking to see which ones are "not busted". Then they'll implant 2 or three of the ones that pass the initial spot check for massive problems, and 9 months later there's one or two kiddos.

Now if you're all concerned about the embryos that don't get implanted--what about if they manage to successfully fertilize like 8 embryos at one go? Are they supposed to implant all eight, like Octo-mom? That shiat's just stupid--so by default there's going to be leftover embryos from the way IVF gets done.

The real question is what do you do with the spares? Mount them in a liquid nitrogen dewar on top of your piano?

The ones that 'pass' the tests usually get stored for the next round of IVF in that couple, donated to another couple, donated to research, or destroyed.