Trisomy 21 (Down syndrome) is one of the medical abnormalities caused by the extra presence and state of chromosomes in the body cells. Specifically, Trisomy 21 has to do with chromosome 21. More about Trisomy 21 will be discussed in this article. So, read on as a review of people with this genetic disorder also informs the details here.
An Overview of Trisomy 21
Cells in the body have different DNA molecule structures known as chromosomes. However, every chromosome that makes up part of body cells is supposed to have a definite number. In the case of chromosome 21 and several others, only two copies of genes are supposed to be present in every cell.
Having extra (three) in whatever form is what causes Trisomy 21. In some cases, it is just a translocation of the chromosome 21 gene in a cell to another chromosome.
Down syndrome is so rare that approximately; only 1 in 691 babies have it. However, it is the most common of all the chromosomal-caused genetic disorders. Just like Trisomy 21, having three instead of the normal two chromosomal copies is also what causes chromosomal defects associated with Trisomy 13 and 18.
Trisomy 21 happens when the baby is formed in the womb. It has to do with the aftermath of the sperm fertilizing the egg. As a result, prospective parents of such children can find out before birth. This is as the right diagnosis can reveal it during pregnancy. Also worth knowing is how the possibility of having a baby with Down syndrome is increased with women that are well advanced in age.
As a result of the fetal complications caused by Trisomy 21, survival is not a stroll in the park. However, dealing with the risk for individuals with Down syndrome is better than for individuals with Patau or even Edward’s syndrome.
To further buttress this point, a reliable figure gathered that half of the individuals with Down syndrome live past 50 years of age. By and large, children with Down syndrome have an increased chance of living past their early years. Individuals with Down syndrome do a lot better than individuals with several other chromosome-caused genetic disorders in this regard.
Physical Signs and Symptoms of Trisomy 21
There are defects likely to be experienced by children or people with Down syndrome. Some of these defects affect the physical and intellectual development of the child or person and they include:
- Problems with the performance of the heart, thyroid, and kidney
- Unusual facial features
- Unexplainably quite baby
- Hearing and vision impairment
- Poor response to stimuli
- Various levels of intellectual disability
- The little finger is inwardly curved
- Skeletal abnormalities in the spine, hand, foot, and hip areas
- Several respiratory infections such as cold, pneumonia, and bronchitis
- The second and great toe has an unusually large space between them
For those asking what the defects associated with Trisomy 21 are, listed above are some of them. The severity of Down syndrome is largely determined by the number and state of chromosome 21 copies in every cell in the body. This is also what determines the type of down syndrome.
Can Trisomy 21 Be Treated?
There is no cure for Down syndrome. At least, that is the state of things at the time of writing this article. However, there is specialized medical care that will help affected infants and their parents or families. The special medical care will support by offering therapy and surgery to help manage the symptoms.
Finding Out About Trisomy 21 on Time
It is important that proper screening and testing are done during pregnancy (at the prenatal stage). Amongst other things, the tests will reveal the rare possibility of having a child with this or any other genetic disorders. This can also help you know what you can and cannot take while pregnant.
Parents and families do not have to wait till birth before discovering that a child has Down syndrome. The condition can be diagnosed by observing the fetal conditions in the womb. For example, there is a special blood test that can help in this regard. So, appropriate screening should be done on time.
Thanks to a comprehensive study and a review of people with Down syndrome, we have been able to discuss this genetic disorder here. For starters, it is important that pregnant women, expectant parents, and families at large do proper prenatal screening. The diagnosis will reveal the possibility of having children with Trisomy 21 or any other disorder.
Besides that, people with this chromosome genetic condition should not be stigmatized. It takes so much to live their lives (both physically and intellectually). So people with trisomy 21 need all the support they can get. For this reason, life should be made as easy as possible for those with down syndrome.
It is also important that people know Trisomy 21 (or Down syndrome) is not a disease but a genetic condition. To know about other genetic disorders like Trisomy 21, you can check out the welfare section of the International Health Alliance platform.