Ds Fact

So many of my friends on Facebook are linked to us via the Down syndrome community and I LOVE it.  Many of my friends are posting facts about Ds for the month of October for awareness.  I saw this fact and wanted to re-post here for my family and friends that are outside of the Ds community.  Sometimes, I take it for granted that because I know something I have taught it already, but that isn't always the case.

Excellent fact:

There are three different types of Down syndrome: Standard Trisomy 21, Translocation, and Mosaicism.

Standard Trisomy 21 is when the extra chromosome 21 comes from either the egg or sperm cell. Between 90% and 95% of all Down syndrome is Standard Trisomy 21.

Translocation is caused when a piece of chromosome 21 is located on another chromosome such as chromosome 14. The person with Translocation Trisomy 21 will have 46 chromosomes but will have the genetic material of 47 chromosomes. The person with Translocation Trisomy 21 will exhibit all the same characteristics of a person with Standard Trisomy 21 since they have three copies of chromosome 21. Translocation occurs between 3% and 5% of cases of Down syndrome. 

Mosaicism is when a person has a mix of cells, some containing 46 chromosomes and some containing 47 chromosomes. This occurs either because: a) The person received 46 chromosomes at fertilization but somewhere during early cell division the chromosome 21 cell pairs failed to split creating a cell with 47 chromosomes and a cell with 45 chromosomes. The cell with 45 chromosomes can not survive but the cell with 47 chromosomes will continue to divide. All cells that come from this cell will contain 47 chromosomes. b) The person received 47 chromosomes at fertilization but later during cell division the extra chromosome is lost. Mosaicism occurs in 2% to 5% of cases of Down syndrome. A person with Mosaic Down syndrome may exhibit all, some, or none of the characteristics of Down syndrome depending on the percent of cells carrying the extra chromosome and where these cells are located.

So, what type of Down syndrome does Ethan have?   Ethan has standard Trisomy 21.  There is no way to know if it were my egg or Scott's sperm that caused Bubs' chromosomal enhancement.

*Not Ethan's chromosomes, but very similar to what his makeup looks like