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Thursday, December 12, 2013
Inherited Disorders and Birth Defects
Balanced Translocation and Learning
Can a balanced translocation cause a child to have learning disabilities? If so, how would these disabilities manifest themselves? Are there studies in the literature that you could refer me to?
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 or learning problems since all the chromosomal material needed is present and functioning properly. This is called a balanced translocation.
While there should be 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. Or, sometimes, what looks to be “balanced” is not - that is, there is a loss or addition of chromosomal material that was not seen on routine chromosome testing - perhaps this could lead to problems. This could potentially lead to someone having learning disabilities.
Additionally, learning disabilities in a person who has a translocation may have nothing to do with the translocation. There are hundreds of reasons for learning disabilities - so it may not be connected to a chromosomal translocation at all.
You may want to talk to your doctor or to a genetic counselor if you have specific questions regarding the basis for learning disabilities. You can locate a genetics center through the National Society of Genetic Counselors’ Resource website.
Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University