Down syndrome: an insight of the genetic disorder
What is Down Syndrome?
In every human cell, there is an existing nucleus, and this indicates the house of genetic materials. Genes are responsible for carrying the codes of virtually all the inherited traits either from the maternal or the paternal or even from the ancestors. Apart from carrying the codes of these inherited traits, genes also proceed to group them along a structure which is rod-like, and this is known as the chromosomes. A typical nucleus consists of a total of 23 pairs of chromosomes which are equally inherited from both parents. Whenever an individual has either a full or partial additional copy of chromosome 21.
This additional genetic material is detrimental to the health of that particular individual as it alters the course of development thereby resulting in various characteristics that are considered associated with Down Syndrome. A few of the most common physical traits of Down Syndrome include small stature, low muscle tone, a single deep crease along the center of the palm, an upward slant of the eye and many more to mention but a few. Obviously, everyone with Down Syndrome are considered unique individuals as they may exhibit these characteristics in varying degrees.
According to the statistics of the United States Center for Disease Control and Prevention, Down syndrome through birth can be exhibited in one in every 700 citizens of the United States. This breakdown is enough to make Down syndrome itself rise as the most common disease associated with Chromosomal issues. Furthermore, the board also confirms that every 6000 babies who show the characteristics of Down syndrome are born in the United States.
When Was Down Syndrome Discovered?
For many centuries, many of the unique individuals born with Down Syndrome have alluded to various fields such as literature, arts, and sciences. Until the late nineteenth century, an English physician famously known as John Langdon Down published a concise description of a person who has Down syndrome. This scholarly was later published in 1866, and it earned him great recognition as the “father” of Down syndrome. While other scientists had earlier recognized the characteristics of this syndrome, it was this man that later wrote an accurate description as a distinct as well as a separate entity.
In recent years, the advancements in sciences and particularly medicine has provided researchers the opportunity to investigate the characteristics of people who show the traits of Down syndrome. History also documented that a French Physician, Jerome Lejeune in 1959 identified Down Syndrome as a condition that mostly affects the chromosomes. Instead of the normal 46 chromosomes expected to be found in each cell, Lejeune opined that people with Down syndrome have 47 chromosomes. Later, it was discovered that an extra partial or whole copy of chromosome 21 can end up resulting in the characteristics associated with Down Syndrome. There are also several researchers who have been able to successfully identified and cataloged an approximate number of 329 genes on chromosomes 21. All of these accomplishments are some of the great things that opened the door to great advancements in the research on Down Syndrome.
Different Types of Down Syndrome
There are three main types of Down Syndrome; trisomy 21, translocation and mosaicism
Trisomy 21: This is the most common types of Down Syndrome. It occurs whenever there are more than two number 21 chromosomes present in each of the body cells. Instead of the normal 46 chromosomes that are expected to be found in that particular person, you’ll find that a person with Down syndrome has 47. This additional genetic material is responsible for altering the course of development of that individual, and this results in the characteristics associated with Down Syndrome. Interestingly, trisomy 21 account for about 95% of the cases of persons with Down Syndrome.
Translocation: Translocation accounts for about 4% of every case of people with Down Syndrome. In translocation, some parts of the chromosome 21 are found to break off especially during the division of body cells, and this part of chromosomes attaches with an entirely different chromosome. A typical instance is the chromosome 14. While the total number of chromosomes expected of a normal human being remains 46, the presence of the additional part of chromosome 21 results in the characteristics of Down Syndrome.
Mosaicism: This occurs when there is non-disjunction of chromosome 21 in one of the initial cell division especially after fertilization in women. Whenever this occurs, there is a mixture of two different types of cells; some contain 47 chromosomes and others consist of 46 chromosomes. Mosaicism accounts of about 1% of every case of Down Syndrome.
What are the Impacts of Down Syndrome on the Society?
In recent times, individuals who have Down syndrome are rapidly strengthening the ties of integration into the communities and society organizations such as workforces, schools, health care systems, social and recreational activities and so forth. Individuals with Down syndromes will obviously possess varying degrees of cognitive delays from mild to being severe.
As a result of the rapid development in medical technology, people with Down syndrome nowadays are living longer than ever before. Looking through the year 1910, children who were born with Down syndrome were predicted to survive to age nine. Following the discovery of various antibiotics, the average survival of children with Down syndrome was expected to be at age 19 or probably 20. With the recent advancement in the field of medicine through state-of-arts clinical care, particularly with corrective heart surgeries, the average life span of adults with Down syndrome is now estimated at age 60. It may interest you to note that more and more Americans are creating a smooth relationship with individuals who have Down syndrome while also using this medium to increase widespread public education and acceptance.
What is World Down Syndrome Day?
World Down Syndrome Day is observed on 21st March of every year. On this day, individuals with Down syndrome as well as their neighbors who lives and works together with them all across the world will organize and participate in various activities that will raise the level of awareness of the general populace while also creating a single global voice for advocating for the rights, inclusion as well as the well-being of people with down syndrome.
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