Pathophysiology of Down Syndrome

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What is Trisomy 21?

Trisomy 21 is when there are three copies of the 21st chromosome instead of the expected two. This results in what is commonly known as Down Syndrome. The terminology of Trisomy 21 and Down Syndrome is commonly used interchangeably however in a biological context, there is a difference. Trisomy 21 occurs at the level of cell division where the expected cellular replication processes results in an unexpected amount of chromosomes and the process of this occurrence is called nondisjunction.

There are three types of trisomies that results in Down Syndrome. They are: Trisomy 21 or free trisomy, Mosaicism, and Translocation or Robertsonian translocation. The processes of each of these types of Trisomy originate differently. Some trisomies originate from the egg, sperm or zygote. To have a full understanding of how this occurs, requires a review of Grade 10 biology (for our purposes, we will cover the basics and not go into extreme detail of cellular replication and embryotic development, doing so would be to explain major concepts presented in biology 101). Continue reading “Pathophysiology of Down Syndrome”

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What Causes Down Syndrome?

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Trying to find cause or fault is futile. It halts the process of reclaiming joy

Finding out that your baby has Down Syndrome is wholly unexpected and coming to terms with this new information is an emotional process.  You may have come across this page if you are looking for a cause, a reason, feel guilt or even blame yourself or someone else, that your baby has Down Syndrome. Trying to seek out answers to who, what, why or how your baby has Down Syndrome, is a futile search that will lead to more questions than answers. The truth is, is that science has no answers and no way to detect how your baby came to have Down Syndrome. Science only has possible reasons and whether these possible reasons apply to you, science does not even know. One needs to move on from fact-finding and information gathering to what is most important.

It is most important to know that:  It is not your fault your baby has Down Syndrome. It is not anyone’s fault… and I will tell you why.

Continue reading “What Causes Down Syndrome?”

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Trisomy 21 versus Down Syndrome

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Trisomy 21 versus Down Syndrome

 

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Trisomy 21 and Down Syndrome are commonly used interchangeably however, there is a  difference in what they mean. Trisomy 21 refers to an extra copy of chromosome 21. This means instead of having two chromosomes that are the same, there are three. Trisomy 21 is a type of aneuploidy, there are other types of aneuploidy. Aneuploidy literally means not the normal amount of sets of chromosomes (an-not normal, eu-normal, ploidy-sets of chromosomes). Continue reading “Trisomy 21 versus Down Syndrome”

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