Robertsonian Balanced Translocation Chromosome 13&14

[Shelly]

:)

I have a Robertsonian Balanced Translocation Chromosome 13&14 which is hereditary and runs in families. My sister has it and one of my cousins has it.

I have recently had my first baby and he also has it.

You can find out if you have it by getting a blood test done.

The way it affects you is when you have children, you may or may not be able to carry the baby full term and you may or may not carry it until 12 weeks, you can also have a stillborn baby with the Chromosome 13 & 14.

I would like to hear from other people who have the Robertsonian Balanced Translocation Chromosome 13 & 14.

Shelly

[wombat woman]

Not sure if you still hang out here, I PMed you.

Karen :)

[tamibee]

Hello Shelly

I too have a balanced translocation of the 13, 14 chromosones. And I have just found out today that my son and daughter also have it.

But to date we are the only ones who have the condition in the family.

Mine was discovered after many, many misscarriages and a real lot of trouble concieving.

I am now trying to find out about my fathers side of the family to see if maybe it comes from that side.

And now since my children have been diagnosed I am on the hunt to find any information out there.

tamibee:wizard:

[wombat woman]

Hi Tamibee, I have it too :(

My story:

I was diagnosed with PCOS and was not ovulating. I did 3 rounds of Clomid and 7 cycles of FSH injections. After 2 m/c and not much luck I was sent for recurring loss testing and thats when they did karyotyping on me and found my RT 13:14. I went to Genetic Counselling and was told I can keep trying with FSH injections and hope for a good one or do IVF with PGD to increase chances. This meant going private, (way expensive) I believe only 2 places in NSW perform PGD and one sends the embies to Monash in Melbourne for the PGD part, the other does it on site.

I am one of 7 children and all have families with no probs so we're thinking it only occured in me also.

This is my 4th (I think?) fresh cycle of IVF with PGD. I also had one FET. My egg collection was last Sat 24 March. So far so good.

Some questions and please don't answer if you don't feel comfortable.

I was wondering if you used IVF to conceive your children? Must they reach a certain age before testing for the translocation? Did you do amniocentesis and CVS? I'm sure I have more questions but will leave it at that for now.

It's so good to hear success stories, congratulations.

Karen