Genetic Disorders and Down Syndrome Essay

Down Syndrome, also known as trisomy 21, is a genetic disorder in which a baby is born with an extra chromosome. A baby is usually identified at birth through observation of a set of common physical characteristics. They include having slanted eyes, a pushed in face, and “Brushfield spots” [white/gray spots that appear in the iris of people with down syndrome]. In the 1930’s down syndrome was not treated very well, however many changes in the medical field has led to a better treatment of those who have this illness.

Down syndrome is named after Dr. J.L. Down, who first discovered and studied the condition. It is part of a large number of disabilities known as intellectual disabilities. Down syndrome is present at birth and individuals are usually diagnosed during pregnancy or shortly after birth. There are three types of Down syndrome. The most common of these involves an extra number 21 chromosome, which gives the individual 47 instead of 46 total chromosomes. A chromosome breaking and then reattaching to another chromosome characterizes translocation, which is the second type of Down syndrome. The third type, nondisjunction occurs when a pair of chromosomes fail to separate properly during nuclear division. Individuals with this disability usually

Jane O'Brien: (In a comforting voice) First, calm down, Miss Anderson. I know it’s hard for you to hear your baby has Down syndrome but please take a deep breath, I will explain everything you need to know. First of all, Down Syndrome is a genetic disorder that involves birth defects, intellectual disabilities, and characteristic facial features. Additionally, it often involves heart defects, visual and hearing impairments, and other health problems. if you thinking what is genetic disorder is. Genetic disorder is altered or faulty gene or set of genes. The four broad groups of genetic disorders are single gene disorders, chromosome abnormalities, mitochondrial

Down syndrome occurs in people who were born with three, rather than two, copies of the 21st chromosome. This extra genetic material is what brings about the effects of Down’s syndrome. It is often characterized by an impairment of cognitive (process of thought) ability. Most people with Down syndrome have lower than average, mild to moderate, cognitive ability and this cannot be predicted at birth. A smaller number fall into the severe impairment range. Physically, people with Down’s syndrome are smaller in stature, have less muscle tone, and have noticeably different facial features. The number of these births occurs approximately in one out of every one thousand (ndss.org). As of 2007, the number of people in the United States with Down syndrome stood at about 350,000. These numbers will shrink because now (most) potential parents can know the condition of the fetus early. This information is included to let the reader relate to the struggles that some with Down syndrome goes through.

A genetic disorder is an a disease or condition caused by one or more abnormalities in the genome. Genetic disorders are an inherited medical condition, which are caused by a DNA abnormality. “Noonan Syndrome is a genetic disorder, it prevents normal development in different parts of the body (Mayo, 2016).” There are several different abnormalities caused by Noonan Syndrome that can affect people. Noonan Syndrome is a genetic disorder which a means it can be passed through parents to their children.

Genetic disorder has many diagnostic and common names for example, DMD is also known as Duchenne muscular dystrophy or Becker and pseudohypertrophic muscular dystrophy. DMD is a genetic disease that occurs mostly in boys. According to the “Muscular Dystrophy Association DMD is inherited in an X-linked pattern, because the gene that can carry a DMD-causing mutation is on the X chromosome. The male host inherits an X chromosome from his mother and a Y chromosome from his father, which is what makes him male. The female host inherits two X chromosomes, one from each parent.” (MDM). “The human X chromosome carries regions prone to genomic instability: deletions in the Xp22.31 region, involving the steroid sulfatase gene cause X-linked ichthyosis; rearrangements in the Xp21.2 region are associated with Duchenne or Becker muscular dystrophies (DMD or BMD); and the Xq27.3 unstable region, containing the (CGG) in repeat expansion in the FMR1 gene is associated with fragile X syndrome stated in the article, “A Family with Fragile X Syndrome, Duchenne Muscular Dystrophy and Ichthyosis Transmitted By An Asymptomatic Carrier”(Todorova, A)

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.

My genetic disorder is Fragile X Syndrome. Fragile X Syndrome is a disorder that causes you to take more damage when you hurt yourself and affects your ability to think. This disorder is tied to the X chromosome and nothing contributes to it, but it does contribute to De Grouch Syndrome. De Grouch Syndrome has more advanced affects. The cause is a boy inherits an X chromosome from only his mom but a girl can inherit it from mom or dad.

The aetiology of Downs syndrome which means the cause of a specific disease (Mcferran, 2014). Suggests that when one of the chromosomes in reproduction do not separate properly this is when Down’s Syndrome is caused (Steven, 2005). This extra chromosome causes physical developmental defects this causes reduced muscle tone, a small mouth with a projecting tongue and eyes that slant downwards and upwards and causing the back of their head to be flat. Many babies born with Down's Syndrome are diagnosed with the condition after birth and are likely to have many physical defects for example they may have reduced muscle tone, eyes that slant upwards and outwards, a small mouth with a protruding tongue and a flat back of the head. (Hartley, 2015). Down Syndrome patients can also be afflicted with other conditions, including heart disease, Alzheimer’s disease, and leukemia (WHO, 2010). This could effect children and adults through out their life also effecting their physical and mental health.

What is a genetic disorder? A genetic disorder is a disease Inherited medical condition caused by DNA abnormality. The genetic disorder is caused by change or mutation. The name of this disorder is called autism. Developmental Screening and Comprehensive Diagnostic Evaluation is two types of how it gets diagnosed.

Genetic mutations are permanent changes in a DNA sequences that makes up a gene. The majority of disease-causing gene mutations are unusual in the overall population. The two major classifications of gene mutations are hereditary and somatic mutations. Hereditary mutations are immediately inherited from a parent and exist throughout a person’s life. If the DNA from the sperm or egg cell contains a mutation, the resulting fertilized egg will also inherited the mutation. Somatic mutations occur by either environmental factors or when an error appears during DNA replication. Unlike hereditary mutations, a somatic mutation will not be present in every cell. Mutations typically have a negative connotation; however, they are not always harmful,

In the nineteenth century, 1886, John Langdon Down was the first to publish an accurate description of Down syndrome, so he was then deemed the “father” of this disorder. However, there were earlier drawings and descriptions of Down syndrome that began the awareness of the disorder. Down syndrome has become the most commonly occurring chromosomal condition. Children who have Down syndrome can have moderate to severe delays in communication development. Because of the delayed development that comes with Down syndrome, the affected children will have more phonological difficulties than others do(book). There are quite a few common physical traits of Down syndrome. These traits are an upward slant to the eyes, low muscle tone, a single deep crease across the center of the palm, and a smaller stature. However, not each person with Down syndrome shows each of these characteristics to the same degree or they may not show them at all.

known risk factor is advanced maternal age-at age 35, a woman has 1 chance in

Down syndrome is a genetic disorder in which a person is born with an extra copy of chromosome 21. There are three genetic variations that cause Down syndrome: Trisomy 21, Mosaic Trisomy 21 or Translocation Trisomy 21. There are many ways in which theses disorders affect the body.  Trisomy 21 occurs when an egg or sperm comes in with an extra copy of chromosome 21, then, once an embryo is formed and starts to develop, the chromosome is replicated in every single cell of the embryo. Trisomy 21 is the most common type of Down syndrome. About 92% of Down syndrome patients have this type. People with Trisomy usually have physical problems.

Down syndrome was named after John Langdon Down, who was the first person to discover Down syndrome. In the earlier years it was called Mongolism, which is no longer used because it is offensive to the Mongolians. James N. Parker and Philip M. Parker state “Down syndrome is a chromosomal disorder caused by an error in cell division that results in the presence of an additional third chromosome 21 or ‘trisomy 21’” (10). There are different types of Down Syndrome according to the National Down Syndrome Society (NDSS), there is Trisomy 21, Mosaicism, and Translocation (What is Down syndrome?). There is no way to prevent having a baby with Down syndrome although chances increase as the woman gets older. The NDSS says, “A 35-year-old woman has about a 1 in 350 chance of conceiving a child with Down syndrome, and this chance increases gradually to 1 in 100 by age 40” (What is Down syndrome?). Although the risk is greater for older women, it is still possible to have a child with Down syndrome at a younger age.