The Genetic Disorder of Down Syndrome

Chapter 2 had a lot of new information that I was able to learn, a few things that I knew from prior knowledge is that humans take longer to become reproductively mature then any other mammal. I have known this for as long as I can remember with growing up on a farm and watching animals mature. I always thought it was crazy that around the age of 2 could be giving birth to a fully developed baby. Thinking about a two year old child giving birth to a baby would never be possible! Down syndrome is an intellectual disability that is caused by and extra set of chromosomes 21. I’m not sure where I learned this but I have been aware that they are different from you and me because their extra set chromosomes.

Many people are affected by genetic disorders every day. Abnormalities in one’s DNA are what cause a genetic disorder. These disorders could be as little as a mutation in a single gene. In another case, they could be as severe as having an extra chromosome, or taking away a chromosome.

Prognosis is another term used in the medical field that explains the outcome or course of a condition. Fortunately, the prognosis of Down syndrome has increasingly been better today than in past years. “The life expectancy for people with Down syndrome has increased substantially” (United Cerebral Palsy, n.d.). In 1929, the average lifespan was nine years old and today it is more common for them to live well beyond the age of 50 years old (United Cerebral Palsy, n.d.). “Many are able to hold jobs, live independently with support and their social functioning often exceeds intellectual functioning” (Gene Facts, n.d.). Because their social functioning is well above the other skills in their lives, many individuals with Down syndrome are form

It's hard to believe a random error in cell division known as nondisjunction can be the reason for so many birth defects. This one mistake is the cause of 1 in 691 babies being born with what is known as Down Syndrome. In every cell in the human body, there is a nucleus. Typically there are twenty three chromosomes in each nucleus. Down Syndrome occurs when there is extra full or partial copy of chromosome 21. Down Syndrome is a chromosomal condition that causes low muscle tone, small stature, and a single deep crease across the center of the palm. Although, each person with Down Syndrome is a unique individual and may have these characteristics to different degrees.

Trisomy 21(Down Syndrome) is one of the most common types of chromosomal mutation. First published by John Langdon Down in 1866 and associated with chromosomes in 1959 by Jerome Lejeune, this mutation has affected thousands of infants around the world. The main cause for Down Syndrome is the formation of a 2 chromosome coming together in addition to another that does not belong. This produces extra genetic material. This occurs in the 21st chromosome of a human karyotype and this causes the newborn to have 47 chromosomes instead of the normal 46 chromosomes. So when the egg and the sperm come together there is an uneven amount of chromosomes coming from each parent.

Genetic testing is a medical test that can find and identify changes in proteins, genes or chromosomes. Using a genetic test can confirm or deny a suspected genetic condition, as well as to help determine a person who is possible of carrying on a genetic condition.(NIH, 2016)

Down syndrome is a congenital disorder arising from a chromosome defect, the chromosome causing the problems is Chromosome 21. Down syndrome current affect about 1 in 600-800 live births in the United States. There are about 400,000 Americans that have Down syndrome, with approximately 6,000 babies are born with this disorder each year. The disorder is thought to form during gametogenesis, during fertilization, or soon after fertilization (Daniilidis, et al. 2015). Fertilization occurs when the sperm binds to zona pellucida, then the sperm undergoes acrosome reactions which will lyses a hole in zona pellucida, and then the sperm and egg membrane fuse. Once the membranes fuse, the sperms genetic material gets released and gets combined with the egg’s chromosomes, thus resulting in a 46 chromosome fertilized egg. This is the mostly likely phase in which Down syndrome gets formed, since it is caused by a mistake in cell division during the development of the egg, sperm or embryo. The mother or the father can be the origin in which the extra partial or full chromosomes come from, but approximately only 5% have been traced to the father. Maternal age is the only risk factor that has been linked to an increased chance of Down syndrome. Down syndrome is not inherited, but 4% of translocation Down syndrome is inherited (Mayo Clinic Staff).

Down syndrome is a cell malfunction that affects people on a day to day basis all across the world. Down syndrome is a condition in which a person has all or some of the third copy of chromosome 21 present. There are three types of Down syndrome. The first one is called trisomy 21, the second one is called translocation Down syndrome, and the third one is called mosaic Down syndrome. Down syndrome is the number 1 genetic condition in the United States and there is an excess of 350,000 people living in the United States with this condition.

Down syndrome (DS) is a chromosomal problem due to abnormalities on the 21st set of chromosomes, which causes delayed development in functioning and shorter life expectancy (Choi, Van Riper & Thoyre, 2012; Crawford & Dearmun, 2016). The most common features of DS are physical appearance and mental retardation (Crawford & Dearmun, 2016). People with DS have increased risks of developing various comorbidities, for example, around 50% of individuals with DS have the risk of experiencing congenital heart defects (Dixon, 2008).

When first diagnosis was given to Jeremy and his wife there was significant doubt and concern; mostly because of the outdated information presented to the new parents. Finding their own voice and researching on their own they found that Down Syndrome is not the “I’m sorry” they were receiving from friends and family. Down Syndrome changed their lives, but not their love for their daughter. Their daughter, Abigail the “beautiful and lively second-grader is popular, funny and fully included in her classroom.” Abigail = her father’s joy. Something many people are lacking in their lives….joy.

Down syndrome, also known as Trisomy 21, is a genetic disorder. It is caused by an abnormality in the number of chromosomes. DNA (deoxyribose nucleic acid) chromosomes are originate in the cell and are comprised of genes, which decide hereditary traits (Epstein pg.199). If a person has an extra chromosome on chromosome number 21 out of 23 they will have Down syndrome. The extra chromosome may delay the growth of a child’s physical and mental development which may lead to mental retardation. Normally, a person has 46 chromosomes, and will receive 23 pairs of chromosomes from the mother and 23 from the father totaling 46. But someone with Down syndrome will have 47. Although many theories have been developed, it is not known what actually

Down syndrome is a chromosomal disease caused by an abnormality dealing with the 21st chromosome. Down syndrome is unique to each individual, and three different kinds can occur. The three different types include Trisomy 21, Translocation, and Mosaic Down syndrome. Not only do these differ, but they all affect the body in different ways. Down syndrome affects appearance, mental cognition, and one’s ability to speak and learn.

Down syndrome is a congenital chromosomal disorder during maternal meiosis. This is one of the most common chromosomal disease that has been confirmed (Epstein, 2013). Down syndrome causes some symptoms in children’s physical and mental aspects, which have significant differences with other people. It may cause the life of the child is abnormal and cannot live independently in the future. With the increased population of children with Down syndrome in Australia, it becomes prominent that they strongly impact on their family and society in both positive and negative ways. This article will introduce some basic information about Down syndrome, discuss its early intervention and ethical issues of having a baby with Down syndrome, and result in coming up with views in regards to terminating or continuing with the pregnancy of a foetus diagnosed with Down syndrome.

The possessor of this genotype has the genetic disorder called Down syndrome. Down syndrome is caused by this person having chromosome 21, which is also called Trisomy 21. There are different things you see in people with Down syndrome such as, different physical and mental traits. This genetic condition varies between each person with this genetic disorder. They all have similar features, but do not look the same.

Down syndrome or another name known as trisomy 21 is a genetic disorder that is caused when there is a chromosomal mistake that occurs during meiosis that leaves an extra chromosome. A lot of the time a break occurs in the fourteenth and the twenty first chromosome, this is called Robertsonian Translocation. Breaks can occur in other areas however it seems that Robertsonian Translocation is the most common.