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Trying to find parents with a "balanced translocation" or other chromosome translocations.

post #1 of 5
Thread Starter 

I have a genetic abnormality called a translocation. It affects my chromosomes 21 and 14 and is asymptomatic but causes me to be a "carrier" for Downs Syndrome. At 26 years old, I have a 30% chance of having a child with Downs Syndrome.

 

http://en.wikipedia.org/wiki/Chromosomal_translocation

 

My father also has the translocation and passed it on to my brother and I. My brother and his wife have had 2 children with Downs Syndrome. We had no incidence of Downs Syndrome prior to this in our family. When my nephew was also born with Downs Syndrome, everyone in the family got genetic testing.

 

2 months ago, I had a healthy baby girl who does not have Downs and does not possess this translocation either. I hope to have more children in the future. I am interested in finding other people who may have experience with this (or something similar) and all the prenatal testing that goes along with it. Are there other people out there with this in their families?

post #2 of 5

I don't have a translocation myself, but I am a midwife and I work at a hospital where all the women we care for are carrying a baby with some kind of birth defect.  So we see a lot of genetic issues and I have cared for a number of families with translocations.  I'm sure you know that you can have a microarray done from a CVS that can diagnose a translocation relatively early in a pregnancy.  What a stressful situation for you and your family.

 

Jessi

post #3 of 5
Thread Starter 

I had an amnio at 18 weeks pregnant with my daughter and had the results by 20 weeks. It was a great relief to know what to expect instead of spending the whole pregnancy wondering. I plan on prenatal testing, most likely a CVS, at any more pregnancies I may have. Since posting this I have found a yahoo group specifically for people with Balanced Translocation. It has been a tremendous comfort and I suggest if anyone else out there has a BT, they join that group.

post #4 of 5
Hi I'm a carrier of a balanced translocation between 14 n 18 as well as my mother.my mothers first child (my older sister) had birth deffects do to the translocation her chromosome are unbalenced..now I'm 26 year old in good health condition and I recently found out I'm 5 weeks pregnant!..this is my first pregnancy and I'm soo worried about my baby.,I can't wait to see a genetic counselor to know what are my chances of having a baby with birth deffects..:-(
post #5 of 5

Please help! I have balanced translocation and have nah 4 miscarriages. Met with genetics counsels who suggested Pgd. We cannot afford this. What are my chances of any success at -age 38 of a successful pregnacy? I can't find anything on this! 

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