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Sunday, September 21, 2014
Inherited Disorders and Birth Defects
My grandson was born with unbalanced translocation in the 6th pair of chromosomes and we have no idea what it means or how it will affect his learning. He is also ADHD. He is now 15 and has great difficulty retaining information.
An unbalanced translocation is when there is either too much or not enough chromosome material.
When chromosomes divide in eggs and sperm, they should divide evenly. However, sometimes 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 But, 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 birth defects and cognitive problems such as mental retardation. This is an unbalanced translocation and sounds like the situation for your grandson.
The specific types of problems or birth defects would depend on the specific areas of the chromosomes that were lost or duplicated in the chromosomes that are translocated and what specific genes are located at these sites. For many unbalanced rearrangements (translocations) it is not possible to predict what abnormalities to expect or how severe they may be until there is a child with that specific chromosomal problem. You would need to know exactly what part of chromosome 6 is unbalanced to see if any specific information is known about that part of chromosome 6.
If you and your family have not already done so, I would suggest that you speak to the genetic counselor or a geneticist to discuss the specific chromosomal abnormality that your grandson has. These professionals work with cytogenetics experts regarding chromosomal abnormalities - and may be able to provide you with more detailed information if they know exactly what pieces of chromosome were lost or duplicated.
You can locate a genetics center near you by going to the National Society of Genetic Counselors Resource Center at the website below.
Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University