Any diagnostic reports that indicate to us regarding the problem with genetics and chromosomes the first and foremost thing that comes to our mind is the question asked above: are they permanent or temporary? Is it curable? How long is it going to stay in the body? Is it like any other disease or infection? Is it systematic? Knowledge about chromosomes to every layman is quite insignificant that they can actually understand if it’s curable or not!
Understanding the nature of the disorder we first need to go through questions word by word and try to coin the characters of the questions. So what are chromosomes rather, what are chromosomes?
The answer is simpler than the complexity of the organization of the character. It is an organelle, or it is a cellular genetic material that can be visualized under the microscope. Such an answer is very novice accessible to each and every non-technical individual.
Let’s have a close look at what is Chromosomes, it is a supercoiled structure consisting of histone proteins and DNA wrapped around it during Metaphase so that when the Cell Division occurs the copies of Chromosomes are equally transferred from one cell to another.
The chromosomes are cellular genetic material that can be seen under a microscope and during Metaphase only when the entire chromosomes are aligned in the arbitrary place called a metaphase plate.
On the basis of gene presentation and staining the regions of chromosomes are referred to as heterochromatin and euchromatin.
There are basically four types of chromosomes Metacentric, Sub-metacentric, Acrocentric and Telocentric, which are basically classified on the basis of the arrangement and position of their centromere. If you want to learn more, read this article: Metacentric, Acrocentric and Telocentric Chromosomes.
These seem quite geeky stuff to understand and correlate but the fact of the matter is what chromosomal abnormalities are and why they actually come into existence?
Well, the answer is abnormalities in chromosomes are termed aberrations they can be due to an increase or decrease of chromosome numbers regarded as numerical aberrations.
On another hand, the abnormalities or the aberrations occur due to structural defects of the chromosomes referred to as structural aberrations, which are deletion, duplication, translocation, inversion, Rings and Isochromosomes.
What Impact do these Chromosomal Aberrations do?
If we talk about Numerical Aberrations, there is always a failure in some or the other separation of chromosomes or the addition of the template or addition of chromosomes leads to phenotypic and genotypic conditions such as Down syndrome, Turner Syndrome is results of trisomy, monosomy, mosaicism and triploidy leading to congenital conditions, that fairly explains that the disorders are from the birth.
However, the mindset of the society is that they find such disorders as a disease. But the fact is they are born with the addition or subtraction of conditions that are not normal. The Subject (In terms of Individual) are specifically perfectly normal as a normal individual but the difference is their structure- the genetic structure which is not normal (Abnormal).
Unlike disease it is never going to be cured, it’s more likely to be congenital and terminal, but the matter of fact is the symptoms that can be managed on the basis of the severity. Well, a critical but something that can be understood in terms of managing the subjects with systemic or behavioral symptoms.
How critical Conditions are?
So far so now it is clearly noted that the defects of the chromosomes cannot be cured because they are congenital, nevertheless, it is fairly observed the numerical aberrations have a significant impact on the phenotypic conditions and they have a wide range of symptoms according to the number of the chromosomes.
However, if it is a structural aberration, which as mentioned are, deletion, translocation, duplication, etc., etc, has their significant impact on the functioning of the disorder. This means the defective subject is as good and normal as a normal human being but the functioning of the body is severely affected because of the structural aberration of the chromosomes viz. Robertsonian translocation of Philadelphia chromosome (9:22) Leads to severe leukemia (AML, CML, ALL, CLL) which are blood cancers and are having acute and chronic symptoms.
These kinds of aberrations show more severity in terms of abnormality, compared to a numerical aberration subject because for them it is a congenital condition, and they have to stay with the conditions and have to manage the symptoms which are going to remain as a terminal for them.
But the ray of hope for some structural aberrations that there are certain surgical methods which can be a sense of relief for the subject but again- it’s a curse for the inheritances in coming times.
Looking forward to the understanding of these particular conditions we need to understand that Chromosomes are the naïve component of being if any abnormality is there it’s due to the transmission from the pedigree and it shall pass on to the forthcoming generation.
Chromosomal abnormalities cannot be cured but yes, can be managed. They are Permanent!!!
Usually, chromosomal/karyotyping abnormalities are congenital as we talked about, meaning, they might come from either sperm or egg cells- the germ cells. When any sudden change originates during meiosis, in germ cells, it ultimately spreads to all cells.
Because the whole organism is formed from the zygote- a fusion of sperm and egg cells. Once the genomic fate of an organism is structured- normally or abnormally, it remains as well.
Moreover, we can manage things associated with karyotype abnormalities but can’t prevent them totally. We can not even repair it either.
Cytogeneticists can rule out karyotyping abnormalities but again, much like other techniques, there are limitations. Not all genetic conditions can be encountered using a single set of techniques.
In accordance with the points noted in this article, understand that all genetic disorders aren’t inherited; some can or some can’t be transmitted to offspring. When it comes to chromosomal or karyotyping abnormalities, majorities are non-inherited, and can’t be cured after birth or during life, however as we said therapies may give some relief.