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Inherited Disorders and Birth Defects

Unbalanced Translocation

03/04/2011

Question:

A couple years ago my oldest son was found to have a unbalanced translocation between chromosomes 1 and 2.We were tested as well and found he got this from me(mom).Our other boy has it as well.The only problem is the genetic counciling gave us nothing to as to what this is doing to us.I am a very anxious person and worry every day i could be the cause of a terrible illness killing my kids.Is there anything you can give me on this chromosome disorder that will help me to know what it is doing to us?

Answer:

The specific types of problems or birth defects for a child with an unbalanced translocation between chromosomes 1 and 2 depend on the specific areas of the chromosomes that were lost or added (duplicated) in those chromosomes and what specific genes are located at these sites. There are over 4000 genes on chromosome 1 and about 2700 genes on chromosome 2. For many unbalanced rearrangements (translocations) it is not possible to predict what abnormalities to expect, or problems to expect or how severe they may be.

The geneticist or genetic counselor you spoke to would have the most information since they know the specific areas of chromosomes 1 and 2 that are involved. If there are genes that are located in the areas which are involved in the unbalanced translocation your sons’ have – the geneticist might be able to tell you how those changes could affect your sons. However, there may not be any information available because your specific translocation may be very rare. It may be that we just do not know much about the specific areas involved in your sons’ unbalanced translocation. This could be why the geneticist was unable to give you more specific information.

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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