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Genetics (Expert Forum)
Reciprocol Balanced Translocation (11;22)
Answered by
Lisa Kessler, MS, CGC - Hereditary Disorders, hemochromatosis, Patient Outreach
DNA Direct
This forum is for questions and support regarding Genetics.
This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Alzheimer’s Disease, Blood-clotting Disorders, Breast Cancer, Cystic Fibrosis, Diabetes, Marfan Syndrome, Ehlers-Danlos Syndrome, etc.
Reciprocol Balanced Translocation (11;22)
by amykidsrus, Jan 20, 2008 09:09AM
My husband and I have been trying to have children for about3 years. We have, so far, had 2 miscarriages. After having the last miscarriage (November 27th, 07) my insurance company agreed to pay for us to have testing done. The tests came back stating that I tested inconclusive on two forms of blood clotting tests (not real clear on this one) and, the devistating part, my husband has a riciprocal balanced translocation between chromosomes 11 and 22. All of the research that I have found on this states that we are not likely to have a healthy baby, if we get to have one at all. The report from the lab stated that we had a very significant chance of having a child with abnormalities. I was hoping that you could enlighten us on this problem. I am unsure to what are chances truely are. Do we have any options (of us having our own child)? The exact diagnosis: 4,XY,t(11;22)(q23;q11.2) abnormal male kartotype. It states the breadpoints are at band 11q3 and 22q11.2. I am not real clear as to what all of this means however if you can enlighten us in any way we would be very greatful.
Doctor's Answer
by Lisa Kessler, MS, CGC, Jan 28, 2008 10:03AM
, Jan 28, 2008 10:03AM
I am very sorry to hear about your losses. Recurrent miscarriage can be very difficult emotionally and physically. About 5% of couples experiencing recurrent miscarriage are found to have a translocation. It sounds like you would benefit from an appointment with a genetic counselor to carefully review and interpret yours and your husband’s test results. Having a reciprocal balanced translocation increases the chance for miscarriage and for having a child with problems, but there is still a chance for you and your husband to have a healthy child.
There are several different conditions that can increase the risk of blood clots and increase the chance to have a miscarriage. Some of these conditions are inherited and some are acquired. It is important to bring the reports from these tests with you to a genetic counselor, so that they can be accurately interpreted. You and your husband have options to consider moving forward, and a genetic counselor can review those with you. You can find a genetic counselor through the website for the National Society of Genetic Counselors. I wish you and your husband the best.
There are several different conditions that can increase the risk of blood clots and increase the chance to have a miscarriage. Some of these conditions are inherited and some are acquired. It is important to bring the reports from these tests with you to a genetic counselor, so that they can be accurately interpreted. You and your husband have options to consider moving forward, and a genetic counselor can review those with you. You can find a genetic counselor through the website for the National Society of Genetic Counselors. I wish you and your husband the best.
