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Sunday, May 19, 2013
Inherited Disorders and Birth Defects
i just found out that me and both my children have a unbalanced translocation between chromosome 1 and 2, i would like to know what this translocation is doing to me and my boys. My oldest has alot of learning difficulties and delays but i do not so i was wondering what this means for me. We just found out our 4 year old has this too so far i do not see the same things as with our other son at this same age. Please any information you can give us would be appreciated.
A 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 is called a balanced translocation. This person should have no health problems since all the chromosomal material needed is present and functioning properly. 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.
An unbalanced translocation is when 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 learning disabilities, mental retardation and autism. This sounds like what may have happened in your family.
The specific types of problems would depend on what genetic material was lost or duplicated in the chromosomes that are translocated and what specific genes are located at these sites. There are almost 2,800 genes on chromosome 1 and almost 1,900 genes on chromosome 2 that code for hundreds of different proteins and have hundreds of different functions. If you and your sons have an unbalanced translocation involving chromosome 1 and 2 - then many genes may be involved.
You need to know exactly what parts of chromosome 1 and 2 are involved in order to make some predictions as to what types of problems to expect. In some unbalanced rearrangements (translocations) it is not possible to predict what the problems will be or how bad they will be.
If you and your sons have not already seen a geneticist or genetic counselor, I would highly recommend that you have your doctor make a referral or you can locate a genetics center near you by using the National Society of Genetic Counselors’ Resource website listed below. The geneticist would be able to provide you with information specifically for your family based on the specific problems with chromosomes 1 and 2.
Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University