what does this syndrome mean?

K - posted on 04/24/2011 ( 3 moms have responded )

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Ana's recently been diagnosed with balanced translocation of chromosomes 20 and 22. i don't know what this diagnosis means for her and our family.

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Megan - posted on 04/25/2011

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A chromosomal translocation means that pieces of two chromosomes have swapped places. The "balanced" part means that no genetic material was lost in the swap. However, if the swap cutpoints occur within genes or important regulatory regions, then a balanced translocation can cause health problems. Pretend that instead of chromosomes, you have 23 pairs of blue jeans. If you swap the legs around between the pairs of jeans, you might not even notice if the fabric was cut and sewn back together neatly. However, if the fabric is cut on a zipper, or sewn back together poorly, the jeans might not be wearable anymore. I hope that analogy helps, I don't mean to diminish the importance of this diagnosis but it sometimes easier to understand a simple example. Definitely schedule an appointment with a genetic counselor to fully understand the implications.

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Louise - posted on 04/25/2011

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I agree with Brandy this is very complex and needs a medical expert to sit you down and tell you just what it means for your child.

Brandy - posted on 04/24/2011

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i looked it up on wikipedia and its very complex and could mean alot of different things, i really think you should talk to the dr about this.

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