Myriam
Balanced Translocation 1;16
Twelve years ago I had a normal female child and then I didn't know I had a problem. I got divorced and married again. My new husband and I wanted to have a baby. We lost three babies in the first trimester of the pregnancies so the doctor decided to study the chromosome information on the fetus. He discovered a trisomy 16. After that we had studies done on all the family and found that I have a balanced translocation (1,16) as do my mother and a second cousin. The geneticist traced back the origin of my problem and it seems to have started with my grandmother. When she was born her parents owned a gold and uranium mine. It seems her mother was in contact with radiation when she was pregnant.
Since we know this we have been very careful about my pregnancies. I'm now 19 weeks pregnant. With prenatal testing and a high definition ultrasound we know the baby does not have trisomy 16, although he could still have a balanced translocation like myself. We will know that only after the baby is born because my geneticist, gynecologist, my husband, and myself decided that he could live an almost normal life with the translocation and the risks of the amniocentesis too great to have one done.
UPDATE JUNE 2001
I haven't been in touch for a while. I just got the spring news. I'm glad Your surgery was successful. Let me remind you a little of my story. My name is Myriam I have this balanced translocation 46XX t(1;16) q(21.3;2.3) I had a daughter and then lost four pregnancies to Chromosome 16 disorders, mainly trisomy 16. That is when I found out about my genetic condition. Now I also have a two years old son. Both of my children are genetically normal and don't even have my translocation.
I
never sent you a photograph of them before, I have one on my computer
now and I'm sending it to you. She is Yentl and is 14 years old, he is
Julian and, as I said before, is 2 years old. I think it is good for
others with chromosome 16 disorders to know that, even if I don't know
how it happened, my children are free from my problem.