Question

in details what's is down syndrome ?

Answer 1

To thoroughly understand downs syndrome, first you need to understand the term “genome” or “genetic makeup” of an organism. Well it refers to total amount of DNA content of an organism governing directly its hereditary pattern. The DNA contains hereditary information in form of genes and thus any abnormality in this genetic content or genome leads to a disorder which refer to as “genetic disorder”.

As we proceed deep into DNA abnormalities you must be aware of the concepts of chromosome and the chromosome distribution in humans. The DNA of an organism is arranged in a separate complete molecular fashion i.e. a single DNA molecule is known as chromosome. In other words, DNA and DNA holding proteins(histones) together forms a fibre or thread like structure known as chromatin fibre, now this chromatic fibre is actually holding your DNA which is way to long for a cell to accommodate in actual form, hence, it condenses to form chromosome. These chromosomes depending upon the genes or hereditary information are divided into two classes: - Autosomes (comprising of genes containing the information of the whole body other than sex of the person) and Allosome (comprising information related to sex of a person). Coming on to their distribution, humans have 23 pairs of these chromosomes, 22 pairs of autosomes and 1 pair of allosome, summimg up to 46 chromosomes in total number. The autosomes are numbered as 1-22 where as allosomes are termed as X and Y. These pairs of chromosomes segregate during cell division so that the new cell receives a copy of all the chromosomes, hence, in this way all the genetic information passes on to the next generation.

Having this basic information, now we come back to our actual problem that what condition is referred to as downs syndrome. It’s a genetic clinical condition in which instead of two or pair of 21st chromosome, a person has three copies of 21st chromosome, hence the condition is also called as trisomy 21. This condition arises when during cell division the 21st chromosome do not segregate and passes on in pair form, therefore, during the genetic development of progeny, it produces another copy, hence, resulting into 3 copies of it.

This leads to overexpression of about 310 genes present on this chromosome, therefore leading to several physical and mental abnormalities namely- stunted growth; mental damage like intellectual disability in terms of low IQ level, speaking difficulty, sometimes alzheimer’s ; abnormal of facial features (teeth, eyes, neck , finger tips, head, tongue, ear, nose); heart problems; thyroid abnormalities, hearing and vision problems, autism (poor social skills, communication problems as well as repetitive behaviour).

No medicated treatment is possible for this condition; however, the treatment includes to help and monitor life of a suffering individual to make it more productive and enjoyable. Primary care for language, understanding and social problems and clinical care for health and disease problems are only remedies for it as of now.