MOSAIC MOMENTS

To begin this series of information on mosaic Down syndrome, I think it is first best to understand how mosaic Down syndrome actually happens when you compare it to Down syndrome.

If you are rolling your eyes thinking how basic this is, then just please bare with me a moment, because you may learn something you didn’t know before!

First of all, when a person has mosaic Down syndrome, a percentage of their cells have an extra copy of the 21st chromosome. This is what we find in Down syndrome.

However, in mosaic Down syndrome this is only a percentage of the cells. They also have a percentage of cells that are typical without the extra copy.

Unlike Down syndrome that happens immediately at conception, mosaic Down syndrome can happen in two ways.

1. Immediately at conception where you have 100% cells with the extra chromosome and then after conception during another cell division that splits the cells unevenly and results in 2 cell lines- 1 cell line has a percentage of cells with the extra chromosome and another cell line has a percentage of cells without the extra chromosome.

2. Or, after conception during a cell division that splits the cells unevenly and results in these two cell lines with the different amount of chromosomes.

Now, I know that feeling of your heart dropping down to your toes! Even if this chromosome change happened after conception, it does not mean that you did anything to cause it! Not drugs. Not drinking. Not scrubbing the floor. Not heavy lifting. Not skydiving. (lol… I hope you were not skydiving when you were pregnant!)

This is a “fluke” for lack of a better word. You have no control over cell division!

The “mystery” of these cell lines is that they could appear anywhere in the body. However, in most cases they are found both in the blood and in the skin.  There are many misconceptions on how this diagnosis can be received. Tomorrow, I will tell you about getting the diagnosis and how these misconceptions are very misleading.

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