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Inherited Disorders and Birth Defects

Balanced translocation carrier

12/18/2006

Question:

My husband is a balanced translocation carrier. We found this out after a red flag from an amnio and some blood work. We found out the baby I was carrying had an unbalanced arrangement. We discussed our options with a genetic counselor. The future for our child looked grim---including retardation, heart problems, little to no muscle tone etc... We decided to terminate----it was the hardest decision my husband and I have ever made. We do have a beautiful 2 year old son now and I would like to attempt to have one more. What is your opinion on trying to conceive another child??? ALso, from your experience, what is the outcome of most children born with an unbalanced arrangement?? Do they live usually after birth, if so, how long? what is the extent of their disabilites/ birth defects??

Thanks for your help!!

Answer:

As you probably are aware, chromosomal translocations can be somewhat tricky to understand. A balanced translocation occurs when two pieces of chromosomes break off and switch places with each other. If all the chromosomal material is present, just rearranged – that is, switched places (translocated) - this person should have no health problems since all the chromosomal material needed is present and functioning properly. This is called a balanced translocation. There is no way to tell whether or not a person has one of these rearrangements unless you look at his or her blood to examine the chromosomes - such as the case for your husband.

However, there can be problems if some of the chromosomal material that was switched is lost or duplicated when the chromosomes broke and the switch took place – then there is extra and / or missing information that can lead to birth defects and cognitive problems such as mental retardation. This is an unbalanced translocation.

The specific types of problems or birth defects would depend on the specific areas of the chromosomes that were lost or duplicated in the chromosomes that are translocated and what specific genes are located at these sites. For many unbalanced rearrangements (translocations) it is not possible to predict what abnormalities to expect or how severe they may be. While most pregnancies that have an unbalanced chromosomal rearrangement are miscarried, of those that make it to term - the abnormalities seen range from mild to severe. If the abnormalities are severe, there is a greater chance that the child may die in infancy or early childhood. Life span is usually shortened in children with chromosome abnormalities, but not always. Mental retardation is almost always a part of the picture for children with chromosome abnormalities.

I would suggest that you and your husband speak to the genetic counselor or a geneticist to discuss the specific chromosomal translocation that your husband has and whether or not, based on that chromosomal rearrangement, would they anticipate similar problems in a future child if that child were to be born with an unbalanced translocation.

Finally, please accept my condolences on your loss.

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Response by:

Anne   Matthews, RN, PhD Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University