# Balanced translocated chromosomes



## greatgazza (May 27, 2010)

Hi girls

I posted this on the investigations thread too but as i hang around here more (  ) wanted to see if any of you will know anything about this.

I found out today at my recurrent mc appt that I have balanced translocated chromosomes.  I believe this is better to have than unbalanced but i'm a bit confused by it all.  Does anyone on here have it/know anything about it?  I tried doing a search but most of the posts i managed to find talked about people with DH's who had this.  I don't know yet which chromosomes are translocated as i didn't understand what the doctor was saying so had no idea what to ask.  

I believe it can cause miscarriages, but not as likely as unbalanced but from doing some google research i still don't really know what the chances are of birth defects etc.  I felt like i had little time with the consultant to really understand it and it all felt really hurried.  He said that if i'm having donor sperm then as long as i make sure the donor hasn't got it then i should be ok but from reading up on it it doesn't seem quite so straightforward.  I don't want to send myself into a complete panic by believing everything i read on the internet but i want to know what to do next.......  If even me being a carrier is risky then i need to consider whether i switch to donor eggs as well as sperm rather than having OEIVF which i was going to try this month at reprofit.

Any thoughts or experience of this would be greatly appreciated.  Bit worried to be honest.   

GG x


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## aimless1 (Aug 14, 2010)

I know a little about this as when I had all my issues a couple of years back it was discovered that my baby had a " robertsonian translocation".  I was referred by my GP to a genetic consultant/counsellor (I paid for the appointment to get seen quickly).
I would highly recommend asking for a referral because the Consultant I saw was very kind, very clear and spent a long time with me explaining it all and it is very complicated - I had to spend a lot of time looking at diagrams of chromosomes.
With translocations you need to know the sort of translocation (robertsonian or not) and which chromosomes are affected (as that will tell you the likely outcomes).  Balanced definitely is preferable to unbalanced but does carry increased risk of miscarriage (usually because the embryo has an unbalanced translocation which makes the embryo less viable).
I don't know where you are based but I can dig out the name of the Consultant I saw - he's London based.
Don't panic - its really scary but if you are a balanced translocation carrier you can still have a completely healthy child.
Please insist on a genetic consultant because I found that GPs did not have a clue about it and were getting their facts from wikipedia.  Also don't google it too much (which you probably will and is what I did) as a lot of the information on google is totally confusing or wrong,
Amy x


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## aimless1 (Aug 14, 2010)

Consultant I saw was Professor Michael A Patton.  He works out of St George's Hospital in London and also privately from The Portland Hospital.  It cost me £300 to see him privately.
xx


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## greatgazza (May 27, 2010)

Thanks aimless, that's really helpful.

So does that mean you have a balanced translocated chromosome or was it just unlucky chance that your baby had it?

I will make an appt to see my GP and see if i can get to see a genetic counsellor.  Thanks for the name of yours might need it in case i have to bypass my GP if they're not much help (highly likely)

I know what you mean about reading stuff.  Really can send yourself into a complete panic.  The consultant made me think that everything would be fine if i just made sure the sperm donor wasn't a carrier but it really doesn't seem that simple to me.  It seems from what i know so far that there is a risk of birth defects as well as miscarriage, isn't there?

If you are a carrier, what did you decide was the way forward for you to limit mc/defects?  Is there a way to have less risk or is it just total luck whether the combination of chromosomes that get together on the day (sperm and egg) are either normal or not?

GG x


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## aimless1 (Aug 14, 2010)

When the results on the baby came up (after CVS)  one of the possibilities was that one of us (the parents) was a carrier.  It turned out neither of us was. The father of the baby and I both had to have genetic tests done but it appeared the translocation was  "de novo"  (which means it was just something that went wrong at very early cell splitting stage by chance).

With translocations in a parent, the risk of birth defects or genetic problems totally depends on which chromosomes are affected and where the split in them has occurred - basically a translocation is where a bit of genetic material splits off and gets stuck on another chromosome.
That's why you really need an expert to look at your results as they will be able to give you the specifics.  What I believe to be the case if that with balanced translocation you have three possible outcomes:
1) totally chromosomally normal embryo, 
2) embryo with same balanced translocation as you (so probably not an issue until they too want to have children)
3) embryo with unbalanced translocation (as I understand it these are the pregnancies that result in miscarriage or birth defects).

However i stress that that is generalisation only and you do need to know the specific details of your type of translocation to assess the statistics.

There is something called PGD which is where they test embryos for genetic viability before implanting them via IVF - so is a way of upping your chances of a positive outcome.  I know this is more common in the US.  Not sure about over here.  Again your best bet is a the genetic counsellor/consultant who will know far more than me!

I just remember that it was a very confusing and frightening time - genetic translocations is not something you plan on having to know about.  So take good care of yourself.

If I could work out how to do those little hug symbols I would be sending you a load of them.

A x


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## greatgazza (May 27, 2010)

Thanks again aimless.

I'm starting to understand a bit more about it now and have a useful leaflet from Rose on here, I have also made an appt to see my GP to discuss genetic counselling options.

I'm so angry and upset with regards to my consultant yesterday he gave me absolutely no idea or explanation of what this really was or what impact it could have.  I actually came away from the appt thinking it wasn't too big a deal or that important from the very limited information he gave me.  All he literally said was that one piece breaks off and attaches to another but it's balanced so better than unbalanced and it could have been a factor with my miscarriages, he made no mention whatsoever of any risk of defects or abnormalities, or that i might continue to have miscarriages.  I said i was going abroad for IVF soon and he just said that i needed to request that the sperm donor wasn't a carrier as if everything would be alright but even if that's the case it could still have the outcomes you listed    . 

Being single, and older, that's the only appt i will have with him so he literally told me i had a problem but completely glossed over its significance then sent me on my way, no real explanation, advice or help..... I'm really quite stunned now to be finding out what i am and actually how serious this could be.  I really don't know wtf to do next tbh as i was planning on OEIVF at Reprofit in a few weeks...   

I really wanted to fit a tx in before christmas and part of me is thinking f**k it i'll still go for it and if i were to get pg i'll have CVS and see how things are.  I don't know if that's just ridiculous to risk but then i think well there is still a chance of a normal outcome and for everyone even without this there are always some risks and we never know how things are going to turn out even with a seemingly perfect situation as a starting point.

Didn't feel too bad about it all yesterday (as the doc was so blase) but i think it's only just starting to sink in what the implications are.  

Thanks again for your help.  What a f**king mess this whole b***ocks is.  Sorry, i'm just so angry and confused.  And without having an endless pot of money to see consultants privately over here or loads of goes in case i miscarry, and to keep having pgd which is so expensive it just makes me think that mabye it won't actually happen for me and until yesterday, despite my age i still thought i would get there.  Now, even if i go for donor eggs there's the chance of miscarriage.  I did think, if they had found anything yesterday i was just blithely thinking it would be something that could be fixed, like fibroids or things that you can have operations for.  Just feel completely out on a limb now... 

GG x


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## aimless1 (Aug 14, 2010)

Hey GG,
Totally understand the confusion and anger.  These genetic things are completely out of your control which is hard.  When I went through everything i was so fcking angry with the world  because I just could not process the fact that  I couldn't do anything about was happening.  I am so used to thinking that is you work hard or pray hard or wish hard etc etc then you'll get what you want that I just didn't cope with the uncontrollable well.

You need to talk to someone who is an expert so I hope you get to see a genetic counsellor soon.  The consultant you saw sound a right useless idiot to be honest.  It is however possible that he was blase because your particular translocation is less problematic??  

Its virtually impossible to do but you have to try and keep strong and positive - its not all a disaster - just you have an extra challenge.  See the counsellor and then take it from there.

Take care of yourself and remember its fine to be angry.

A x


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