I am answering a comment that was left on my last blog and I am glad it was brought up because it is confusing! We are going through this and barely understand it!! Let me see if I can explain this better. It gets to be so complicated that unless you love genetics, you cannot keep up!
I was born with a balanced translocation. People that have balanced translocations do not have any medical problems except that they have issues when it comes to reproduction. They will be able to tell with the biopsy whether the eggs are normal, have a balanced translocation (like me) or have an UNbalanced translocation. If that is the case, the chance of survival is very slim (this mostly due to where my chromosomes "switched places"). The amazing thing is that this was all determined by my doctor from taking my blood. Isn't that insane?
I have included a picture of a balanced translocation and an unbalanced translocation. Notice the difference in chromosomes. In the balanced translocation, there are still equal amounts of chromosomes (purple and pink), they are just out of order. In the unbalanced translocation, the purple amount is more than what the person should have and the pink amount is less, causing genetic abnormalities.
I have included a picture of a balanced translocation and an unbalanced translocation. Notice the difference in chromosomes. In the balanced translocation, there are still equal amounts of chromosomes (purple and pink), they are just out of order. In the unbalanced translocation, the purple amount is more than what the person should have and the pink amount is less, causing genetic abnormalities.
With my personal translocation, I think chromosomes 3 and 12, my eggs that are unbalanced have a VERY VERY VERY HIGH likelihood to be miscarried or still born (less than 1% survival rate). Every chromosome has different meaning, it is WAY over my head!I hope this helps!
~Amy
Thanks, Amy Lynne - yes it did!
ReplyDeleteAunt Jan
Amy, I can't believe you have to go through all of this, you created a wonderful blog....and YOUR HOUSE IS GORGEOUS...CONGRATS..I really pray this all works out and that you and Zac can get past this stress and have a healthy little baby. You two deserve this more than anything in the world and I will be thinking of you.Thanks for sharing. :) Wish you bought a house in NJ. lol Cam and I would love to come visit once you're all settled.....or let's meet in Cabo next time, instead of Jamaica. haha Keep your chin up.....XOXO Tracey
ReplyDeleteI think you will be ready for medical school by the time this is all said and done!
ReplyDeleteEd Birdwell
Hello! Thank you for creating a blog about balanced and unbalanced translocations. I never ever heard of it until recently.
ReplyDeleteI have been married for over 17 years. In that time I have had several infertility treatments. Recently I decided to go see an endocrinologist who diagnosed me with PCOS (for those who don't know Polycystic Ovary Syndrome). I thought.. ok this is it! This is what will help me to become "regular" again and ovulate! In fact, after I started to take a diabetic medication called "Metformin," I had a blood test that said that I had ovulated on my own. I was so exctied!! My endocrinologist said that it may be a good idea to return to the infertility doctor just to make sure that there were no other problems. The infertility doctor said that since I had two miscarriages, he wanted me and my husband to have a blood test to check our chromosomes. Usually they wait until you have at least three miscarriages to do the test because the test can be very expensive if you don't have some insurance coverage (I was told $800-$1000). I would have done the test years ago even if I had to pay the money! We had the blood test. My husband was fine, but to my surprise, I was not. I was told that I had a "balanced translocation." The top of chromosome 1 switched places with the bottom of chromosome 8. We still had the paperwork showing the test that had been done on the fetus when I had my first miscarriage. It turns out that the miscarriage was a direct result of my "balanced translocation." Now we know why it happened (twice) and that it could happen again. We are now looking into adoption and planning to go back to the infertility doctor yet again to discuss our options. I hope this information helps someone. Time goes by so fast, so early diagnosis is important.