Down Syndrome – Who is responsible?

These are the first and foremost questions that arise in the minds of parents who have been blessed with these angels:

1. Did I commit any grave crime or mistake to see my child being born with this condition?
2. Is there a way that I could have avoided this condition from having occurred?

Trust me. I have been there. And, let me tell you, what you have incurred is a blessing and not a curse. Be rest assured that this could have happened to anyone in the world. So, don’t hold yourself responsible for the situation that you are currently in.

According to certain websites on the Internet, studies have indicated that 95% of the times, this condition occurs due to the incorrect splitting of the egg from the mother. I would like to assure all my women readers two things:

1. There is an equal chance that this condition could have also occurred due to incorrect splitting of the sperm from your male counterparts.
   
2. You absolutely don’t have control on the sperm or egg splitting process.

Now, let me get into a bit of genetics and the life formation process. You should be aware of the fact that an embryo is formed by the fusion of the sperm and the egg.

Now, each of the sperm and the egg have 23 pairs of identical chromosomes (Genetic information to form a new life) or simply said, 46 chromosomes. They are otherwise called diploid cells (2n), where n=23.

 

Prior to fusion, the sperm and the egg undergo a split (meiosis process)  such that the split sperm or the egg cell will now exactly contain 23 chromosomes. These are now called as germ cells or haploid cells (n).

 

Now, the sperm and the egg germ cells (n) undergo fusion to form an embryo cell with exactly 46 chromosomes or 23 identical pairs. This is to say that the initial diploid number(2n or 46) is restored in the new embryo. This is the regular process.
 

But, something else happens in the case of a DS embryo formation. The egg or the sperm might divide incorrectly to form egg or sperm germ cells which have 24 and 22 chromosomes respectively.

 

Let us say for example, a sperm germ cell with 24 chromosomes fuses with that of an egg germ cell that has 23 chromosomes, it will result in the formation of an embryo  that has 47 chromosomes. In 95% of the cases, out of the 23 positions that are available, this extra chromosome attaches itself the 21st position. Hence, this condition is most commonly termed as trisomy-21. To put it in more simple terms,  every cell in the body of  a down syndrome personnel will now have 47 chromosomes instead of the regular 46.

Now, the presence of this extra chromosome in every cell of the body is what causes the complication in the case of Down Syndrome personnel. This extra chromosome leads to the over-expression of certain features which make DS personnel look different. Also, it causes unwanted medical complications. Simply put, this is to say, that an overdose of anything can always prove to be harmful.

 

There is no way that we can get rid of this extra chromosome. If we could do that, Down Syndrome would have been a curable condition.

 

Now, over to the second part of the story. We just looked into the case of a 24 chromosome sperm germ cell fusing with an egg germ cell with 23 chromosomes. One might raise a question here. What if a sperm germ cell with 22 chromosomes fuses with an egg germ cell containing 23 chromosomes, leading to a total of 45 chromosomes. This condition is equally possible. But it so happens, that this embryo aborts itself even while it is in the womb of the mother.

Simply said, the ones with 47 chromosomes are the more resilient ones that come out to rule the world.

 

Down Syndrome – Creating Awareness