Down syndrome is common within the United States. According to Gould and Dyer (2011), Down syndrome is an example of trisomy due to there are three chromosomes that are present versus two in the 21 position. Meaning, people with Down syndrome have a total of 47 chromosomes instead of the original 46. The body is marked by the effects of Trisomy 21. The effects of Trisomy 21 can lead to defects of physical and mental development. Down syndrome was at first also called monogolism, but now it is more commonly known as Down syndrome. The risk of giving birth to a child with Down syndrome increases with maternal age. A woman at age 30 has a risk of approximately 1 in 1000 in bearing a child who has Down syndrome, a woman at age 35 has a risk of 1 in 500, and at age 40 there is a risk of 1 in 100 (Gould & Dyer, 2011). It is unknown if this is due to the cause by the damage of the oocytes resulting of degenerative factors with aging or environmental substances. Some cases it was to be due to paternal origin also. This disorder can be detected by a positive triple screen test on maternal blood followed by an amniocentesis (Gould &Dyer, 2011).
According to Gould and Dyer (2011), characteristics in people with Down syndrome are typically a small head with a flat facial profile, eyes are slanted and the irises contain a Brushfield spots, mouth tends to hand open, large tongue, and high-arched palate. The person can also have small and a single palmar crease, hypotonic muscles, joints are loose, cervical abnormalities, short stature, delay in developmental stages, sexual development is delayed or incomplete, and children are at risk for other problems such as visual issues, hearing problems, obstructions in the digestive tract, celiac diseas...
... middle of paper ...
... is done, then the nurse is the one to follow up with the patient for any concerns or questions that they may have. Silencing of the chromosome 21 allows older women to have children without the possible risk of having a child with Down syndrome. The silencing of chromosome 21 is a major event for nurses, due to it helps possibly increase the lifespan of child and allows people to have children no matter what age they are.
Works Cited
Gould, B.E. & Dyer, R.M. (2011). Pathophysiology for the Health Professions (4th Ed.).(pp. 150-154). St. Louis: Saunders.
Jiang, J., Jing, Y., Cost, G., Chiang, J., Kolpa, H., Cotton, A., Carone, D., Carone, B., Shivak, D., Guschin, D., Pearl, J., Rebar, E., Byron, M., Gregory, P., Brown, C., Urnov, F., Hall, L., & Lawrence, J. (2013). Translating Dosage Compensation to Trisomy 21. Nature, 500, 296-300. doi: 10.1038/nature12394
Down syndrome is a disorder that comes with some defects, such as in the face, heart, sight, and hearing, and other health related problems. It also is the most common genetic defect, affecting many babies. Down syndrome is caused when the chromosomes are being divided during meiosis the cell keeps both copies of chromosome #21, which means the person with Down syndrome has an extra copy in every cell in their body. This is a sad genetic disorder that can change a person's life. Even though it is a devastating gene mutation, the people with Down syndrome are some of the most loving of all people.
From society's perspective, Down syndrome children have become a serious complication in the world. Disabled children with special needs like Down syndrome are not given the directed attention needed for appropriate treatment. In 1862, John Langdon Down characterized Down syndrome as a separate form of mental disability but he broadened his research in 1866. By the 20th century, Downs has become the most recognizable form of mental disability in the world because of the physical characteristics that distinguish their disability (Patterson, 137). Some symptoms include a small-flattened face, bowlegs in some cases, and generally, their tongue is too big for their mouth so it usually hangs outside of their mouth as well as other physical characteristics exemplifies a Down syndrome child (Wedro). Down syndrome, Downs or DS, occurs in children who have an "extra copy of chromosome 21." Ninety-five percent of Down syndrome cases are Trisomy 21 (nondisjunction), four percent are translocation, and one percent is mosaicism. There are roughly 400,000 cases of Downs in the United States toda...
“About 13 of every 10,000 babies born in the United States each year is born with Down syndrome. It affects an equal number of male and female babies” (Johnson P. A. 2014). Down syndrome is a genetic disorder that found across the world, however it is more prevalent in the United States. The cause of the disorder roots to the paring of the human chromosomes. A normal human receives 23 pairs of chromosomes, each pair coming from mother and father. In Down syndrome most people affected have an abnormal cell division of the chromosome. Both parents are carriers of the There are three types of variations that includes trisomy 21, mosaic, and translocation.
In 1866 British doctor John Langdon Down defined and described the characteristic symptoms of Down Syndrome but was unsure of the cause. It wasn't until 1959 that Dr. Lejeunne and his team in Paris showed that people with Down Syndrome have an additional chromosome. We normally have 23 pairs of chromosomes, each made up of genes. The cells of people with Down Syndrome include three chromosome #21 instead of two. The extra 21st chromosome causes an extra dose of proteins. These proteins cause the typical features of Down Syndrome. While the fetus with Down Syndrome is developing, its body cells do not reproduce as fast as usual. That is the main reason why these babies are smaller than average after birth and their brain not as big as those of other newborn children.
Children born to older parents are at greater risk for genetic abnormalities, such as Down syndrome. No one knows what causes the chromosomal abnormality that results in Down syndrome, a condition according to the National Association for Down syndrome, affects one in 800 to 1,000 babies in the United States. Any woman regardless of her culture, race and socio-economic status can have a baby with Down syndrome. However, a mother’ age seems to be a unifying factor among children with Down syndrome. Older women have a greater chance of giving birth to a baby with Down syndrome, and the risks increases with every passing year. The National Association for Down syndrome estimates the chance of having a baby with Down syndrome to be as follows:
To all parents, a newborn child is a small miracle, perfect and beautiful in every way. However, in many situations the parents of these miracles learn that their children are “not normal.” Every year 6,000 parents across the country are informed that their child has a genetic disorder called Down Syndrome (“National Down Syndrome Society,” n.d.). Within a matter of minutes parents learn that children with Down Syndrome can also have a variety of other conditions and disorders, will not develop in the same way that other children do, and may even have a shorter life span. However, children with Down Syndrome are happy-go-lucky children with a kind disposition and a wonderful personality. Also known as Trisomy 21, Down Syndrome does not mean the end of a child’s life; it simply means that a child with Down Syndrome will lead a life that is different than that of his or her peers. With love and support from parents, educators, and medical professions these children can become some of the most wonderful people that one will ever meet. Down Syndrome is a genetic disorder that has its own symptoms, occurs during the process of mitosis, and is often connected with other medical conditions; however, with the help of new technology and medical professionals Down syndrome is recognized earlier and those with the condition can lead longer, healthier lives.
Down syndrome was discovered in the 1800’s by a man named John Langton Down. Down syndrome1 is a condition that occurs in the chromosomes. The syndrome affects the intellectual ability of the person effected, their facial appearance and causes hypotonia2. Children born with this usually experience different types of birth defects. These birth defects can include heart defects and intestine blockage. People with Down syndrome are also at a high risk of developing other medical conditions. Some medical conditions include gastro esophageal reflux3, celiac disease4, hypothyroidism5, and leukemia6. Also some visual and hearing problems can arise. There are three types of Down syndrome.
Down syndrome is caused by a problem with a baby’s chromosome. Chromosomes are cell structures made up genetic DNA (“Chromosomes”). Most people with Down syndrome have 47 chromosomes. This changes the way the brain
I’m writing my paper on Down syndrome. Down syndrome is also known as trisomy 21. This happens when a person has a full or partial extra copy of chromosome 21. Most individuals with Down syndrome are small stature, have low muscle tone, and have upward slanted eyes. In America babies born with Down syndrome occurs one in every six hundred and ninety-one births. There is approximately four hundred thousand American’s that have Down syndrome and approximately six thousand babies born a year with this condition.
Down syndrome, a genetic disorder, is the most common cause for intellectual disabilities, occurring at an average of one out of every 700 births (CDS, 2006). This disorder is caused by the extra chromosome 21 (also known as Trisomy 21). According to Hassold and Sherman (2002), the probability of giving birth to a child with DS is not linked to any race, ethnicity, socioeconomic status or geographic location. Maternal age seems to be the only etiological factor that may cause DS.
Trisomy 21 or more commonly known as down syndrome is a condition in which an individual has a full or partial extra copy of chromosome 21 (What is Down Syndrome?, 2012). It was first described as a disorder in 1866 by doctor John Langdon Down and it is the most common cause of cognitive impairment (Heyn, 2014). Today there are three known types of down syndrome trisomy 21 or called nondisjunction, translocation, and mosaicism. Regardless of the type of down syndrome a child may have, they all have an extra portion of chromosome 21 present and the cause is still unknown today (What is Down Syndrome?, 2012). With the cause unknown many people have misconceptions or don’t understand what down syndrome is. That is why I chose to research down
Down syndrome symptoms vary from person to person, and there are different types of symptoms. There are Physical symptoms which include: Decreased or poor muscle tone, Short neck, with excess skin at the back of the neck, Small head, ears, and mouth. And there are Intellectual and Developmental Symptoms which is cognitive damage, problems with thinking and learning is common in people that have Down syndrome. Other cognitive problems may include short attention span, poor judgment, impulsive behavior and slow learning.
Babies with Down syndrome have an extra copy of chromosome 21, which changes how the brain and body develops. The additional genetic material alter the course of the child’s life. What I mean by that is it totally changes the way that they function. Some of the disabilities of Down syndrome include: physical learning problems, speech is harder to understand, or speech delay. Development for a child with Down syndrome involves delayed development, learning disability, or a short stature. People with Down syndrome have different characteristics than others, some of them include: flattened face, almond shaped eyes that slant up, small mouth, misplaced tongue (may stick out of mouth), tiny white spots on the Iris, short neck, small hands and feet, small ears that may fold over at the top, low
The most common form of Down syndrome is known as trisomy 21, and it’s when individuals have 47 chromosomes in each cell instead of 46.
Down Syndrome or Trisomy 21 is an extra copy of chromosomes 21; healthy babies have two copies, while down syndrome babies have three copies. Blood tests that pregnant women get have sparked a debate about aborting unborn babies with down syndrome because the parents “can’t handle it” or “dont know how to care for a baby with a disability.”