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Wednesday, April 23, 2014
Inherited Disorders and Birth Defects
I am 27 yrs old and I am 25 weeks pregnant. At 20 weeks we did an anomaly scan and found out that the fetus is having bilateral club foot. Following that we did karyotyping of the amniotic fluid which showed the following results: karyotype - 46,t(6;10)(q25.2;24.3) with normal sex chromosomes; reciprocal translocation between chromosomes 6 and 10. What does this mean? Will my baby have any other health problems. My first daughter is 1 1/2 yrs old and she is fine. This is my second pregnancy.
From your description, there is a balanced reciprocal translocation between chromosomes 6 and 10. In your case it appears that chromosome material from chromosome 6 switched places with chromosome 10. If all the genetic material is present and functioning, this is called a balanced translocation. There should be no problems due to a balanced rearrangement.
Problems usually happen when some of the chromosomal material that is switched (or rearranged) is lost or added - this is an unbalanced chromosomal rearrangement. In these cases, the pregnancy may miscarry or lead to birth defects.
When a translocation is found in a fetus, the parents should have their blood draw to see if either of the parents is also a translocation carrier. In this case, if one of the parents has the same translocation and is normal, you would expect the fetus to have no problems due to the translocation.
Club feet are a very common birth defect, so it may have nothing to do with the translocation.
If you have not already done so, I would highly recommend that you talk to a genetic counselor or geneticist. They would be able to answer your questions in more detail. You can locate a genetics center near you at the National Society of Genetic Counselors Resource Center website below.
Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University