Unbalanced chromasome

[x_Rainbow_x]

does anyone have this?? no of anyone that has it that can help me?? or no any info about it..

iv read loads about it and there only looks like one option with is IVF with a procedue called PGD.

i need sum help and advice on this.. its gunna kill me waiting 13 weeks...​

 

[sam's mum]

Did they give you any details on the chromosomes you have? Not sure if I'd be any help but I have a PhD in human genetics so could possibly give you some basic information (but might need to know more of what you've been told, sorry). Did they tell you that you have a balanced chromosome translocation (which would possibly lead to unbalanced chromosomes in a child if you got pregnant?) x

 

[x_Rainbow_x]

they never said what i need 2 see the specialist.. basically 1 of my chromasones has snapped and joined another.. she never said if it was just 1 or a few.. basically said it wud be impossible 2 get past 7 weeks and if i did id need an amnio at 16 weks for disabiltys..
she wuddnt tell me anymore.. she didnt sound posative

 

[trickytrouble]

Hope the link below sheds a bit more light on things for you

https://en.wikipedia.org/wiki/Preimplantation_genetic_diagnosis

Dont give up hope just yet.. modern medicine and advances these days are pretty amazing !

TTx

 

[sam's mum]

They obviously know far more than me because they've looked at your chromosomes but one bit breaking off and joining another is called a translocation, and the fact that they've discussed PGD (preimplantation genetic diagnosis) as an option with IVF suggests that you do have a chance of producing children that don't have an unbalanced chromosome translocation. They want to increase your chances by checking the chromosomes of embryos before they are implanted, so you can be sure they have a complete set of chromosomes. I can explain roughly what I think they mean if you want (as long as you know that your situation might be slightly different)? x

 

[x_Rainbow_x]

acctually no thats me who found pgd haha i took it appon myself 2 look oopps...

 

[x_Rainbow_x]

they wuddnt tell me anything... gotta wait 13 weeks... was just hoping ppl cud tell me wtf it is n does.. as if im unbalanced y aint i disabled.. i must be a carrier

 

[sam's mum]

You are unlikely to be unbalanced - want me to tell you what I think has happened with some badly drawn diagrams? x

 

[x_Rainbow_x]

she told me im unbalanced. 1 chromasone broke in half so i have a half of 1 and another 1 has its chromasone and the other half..

her exact words were you have an unbalanced chromasome

 

[x_Rainbow_x]

shoot what u think chick i think my dr was fuked up

 

[sam's mum]

She might have meant that you produce eggs which have unbalanced chromosomes. Please feel free to ignore all of this, as I’d obviously advise you to talk to someone who has had a look at your chromosomes and knows exactly what the situation is, but this is just how it sounds. What she has described (you having half a chromosome, and another whole one with half of that one attached) is balanced, because you are not missing anything, part of your chromosome is just in the wrong place.

Everyone has 23 pairs of chromosomes in each cell (so a total of 46) and when an egg/sperm is formed, one copy of each of those chromosomes goes into it. When the sperm and egg then fuse, the resulting embryo will get one of each chromosome from the egg and one from the sperm (to have a total of 46).

Some people have what is known as a balanced translocation, which means that two of their chromosomes swap sections (or a bit breaks off one and attaches to another, as she said was the case with you). It makes no difference to that person, because they still have all the genes carried on those chromosomes. But they might have problems when trying to conceive, because when the pairs of chromosomes divide to form an egg (containing one of each chromosome), unless the half chromosome and the chromosome with the extra half go into the same egg, the embryo that forms when that egg is fertilised will either have an extra bit of chromosome, or a bit missing.

Sorry about the awful diagram (I only have paint on here and as you can see I don't use it much) but this is what I mean (obviously there should be 23 pairs of chromosomes rather than 3 but you get the idea).

Normally, each cell has a pair of each. When eggs are formed, one copy of each chromosome goes into each egg:

https://i281.photobucket.com/albums/kk217/lynnmarkandsam/Chromosomes.jpg

This is what I think you have from what she has said to you. A bit of one chromosome has broken off and attached to another. So you have one shorter chromosome, and one that is whole but has an extra bit attached (remember that you have two copies of each, so you will still have one complete copy of each of those chromosomes):

https://i281.photobucket.com/albums/kk217/lynnmarkandsam/Translocation.jpg

When eggs are formed, there is more than one way that those chromosomes can divide up:

Either:
https://i281.photobucket.com/albums/kk217/lynnmarkandsam/Eggs1.jpg

Or:
https://i281.photobucket.com/albums/kk217/lynnmarkandsam/Eggs2.jpg

The top two eggs have a complete set of genes. If the one on the right was fertilised, the embryo would have a balanced chromosome translocation (like I think you have), but it shouldn’t cause a problem because all the genetic information is there.

The bottom two eggs do not have a complete set of genes, as one is missing a bit of a chromosome and the other has two copies of a section of chromosome (as it has a whole blue one and the extra bit that has broken off and attached to the red one). If either of those eggs is fertilised, the embryo would have an unbalanced chromosome translocation, and would either be missing some genes or have extra copies of some genes.

If this is the case, I don't see why PGD and IVF wouldn't be an option for you. Obviously they'll be able to tell you more when you have your next appointment, but just wanted to say that this is a possibility and what seems most likely to me. Anyone feel free to correct me - my brain is getting old.

Hope some of that made some sense x

 

[x_Rainbow_x]

woman u r a life saver.. she defo said i have UNBALANCED chromasomes.. so obviously shes completly rong.. silly bint..

but in your opionin what can they do for me.. iv been told that trying for a baby brings risks if i ever get past 14 week...

tell me wall you no..

ur my new best bate hehe...

 

[x_Rainbow_x]

i was told that IVF with a donor might be the only option..

 

[sam's mum]

I still think you should wait until you hear more from her though - if you had more than one translocation it would make things more complicated, and obviously I don't know exactly what your situation is...just how it sounds from the way she has explained it to you (and if she said that one bit has broken off and attached to another chromosome, then the way I explained it sounds most likely). I would definitely ask about PGD though, as that way they could fertilise eggs (IVF) and then perform chromosome analysis, so they could see which embryos had complete sets of chromosomes. That's not something I know much about though, sorry. Obviously a donor egg would

I don't want to give you false hope, but considering her explanation it still sounds as if you have a balanced chromosome translocation. Like I said, there are certain factors that could make it more complicated, but until you know more don't give up hope x

 

[x_Rainbow_x]

thankyou hunni

youv been a massive help 2 me

 

[x_Rainbow_x]

i have 2 see a diff person. a proper genetic consultant;.

 

[coccyx]

hello, may i chip in? My hubby was diagnosed with a balanced translocation. Some of his sperm had an unbalanced chromosome set up, (2 of the chromosones had mixed up the genetic makeup). If we concieved with a dodgey sperm then pregnancy ended in miscarriage usually around 8 weeks. We have had 4 successful pregnancies, and I have been pregnant 13 times so never affected our ability to concieve! Had an amnio each time, but consultant said chances of a dodgey sperm pregnancy surviving were very slight . All our children are wonderful, bright children. Only one has inherited the translocation, so may have problems with miscarriage later in life.

 

[x_Rainbow_x]

see mine prevents me getting past 7 weeks.. i have 2 have treatment 2 get past that

 

[sam's mum]

Glad it helped, and I'm glad you're seeing someone else who might be able to explain it a bit better Do you have a date for an appointment yet?

hello, may i chip in? My hubby was diagnosed with a balanced translocation. Some of his sperm had an unbalanced chromosome set up, (2 of the chromosones had mixed up the genetic makeup). If we concieved with a dodgey sperm then pregnancy ended in miscarriage usually around 8 weeks. We have had 4 successful pregnancies, and I have been pregnant 13 times so never affected our ability to concieve! Had an amnio each time, but consultant said chances of a dodgey sperm pregnancy surviving were very slight . All our children are wonderful, bright children. Only one has inherited the translocation, so may have problems with miscarriage later in life.

So encouraging to hear that I hope your situation is similar Tracie x

 

[sam's mum]

see mine prevents me getting past 7 weeks.. i have 2 have treatment 2 get past that

Again I'm just guessing from what you've been told (hope you don't mind and feel free to ignore me), but I think if you pass on unbalanced chromosomes (a set with either an extra bit or a bit missing like in my awful diagram), development won't get past a certain stage. But I can't see why you would have any problems if an egg with a complete set of chromosomes was fertilised (same with coccyx but the unbalanced chromosomes could come from the sperm but with the same result) x