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Friday, December 13, 2013
Inherited Disorders and Birth Defects
I am 52 years old and I have two children. It was found after many lost babies that I had this translocation and I have passed it on to my son but my daughter is clear. The doctors have never come back to me to tell me how this affects me in health. I am very small in stature, baby ears, thyroid malfunction since 25 yrs of age. Could this be due to the translocation of 10-14. Also my daughter was said to be clear and yet two months ago we lost a little girl at 5 weeks of age due to a chromosone translocation. It seems very odd that this has happened and I wondered if you could give any light on this. Thank you.
As you know, a balanced translocation occurs when two pieces of chromosomes break off and switch places with each other. If all the chromosomal material is present, but 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.
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 miscarriages, birth defects and cognitive problems such as mental retardation. This is an unbalanced translocation and seems to be the case for your pregnancies.
While you should have no problems if the translocation is balanced, sometimes if the breaks in the chromosomes happen to be in the middle of a gene, it could disrupt normal functioning of that gene or genes. Also, if your daughter has just had a baby with a chromosome translocation that was unbalanced, there may be a connection with your translocation, even though she was reported to be "clear".
Laboratory techniques for looking at chromosomes and translocations have changed a great deal; perhaps it would be a good idea to talk to your doctor about seeing a geneticist or genetic counselor to revisit this concern. You can locate a genetics center through the National Society of Genetic Counselors' Resource website listed below.
Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University