Down Syndrome Research Paper

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.

Did you know that close to 6,000 babies are born with Down syndrome every year in the United States? The most common type of chromosomal condition is Down syndrome and there are a few different types of this condition, along with, several different traits that are displayed with this condition. I have always been interested in the topic of Down syndrome and thought it was a great idea to study more about it for my speech. First, I will tell you about what Down syndrome is and who discovered it. Second, I will talk to you about some symptoms and characteristics of this chromosome disorder. Third, I will discuss the 3 different types of this condition, and lastly, how they diagnose Down syndrome prenatally.

. Down syndrome is not a disease that someone catches and is not caused by difficulties during the pregnancy, it is a genetic condition. This condition is caused by the presence of an extra chromosome in the body’s cells and causes a redundant amount of proteins to be formed. All cells of the body derive from a single cell formed by the fusion of a father’s sperm and a mother’s egg. Each cell carries a nucleus full of genetic material known as genes. These genes are inherited from both the mother and father. Each cell normally contains 46 pairs of chromosomes. 23 chromosomes come from one parent and 23 from the other, hence the 46 pairs. When it comes to children with down syndrome, one of the chromosomes does not separate properly and so the

Turner syndrome results in a monosomie of chromosome X and is the only viable monosomie known. One in every 5,000 newborns can inherit this disease. The mental abilities are not affected, although they are usually sterile owing to underdeveloped sex

Furthermore, people born with this unique genetic defect share some similar characteristic traits and features that are both physical

This person's genotype involves a large translocation of genetic material from chromosome 22 to chromosome 9. The abnormally short chromosome 22 is called the Philadelphia chromosome. Patient 2 is significantly at risk for chronic myeloid leukemia, which is a disease linked specifically to this translocation. The swapping of DNA between the two chromosomes causes a formation of a new gene called BCR-ABL. This gene then allows for the production of the BCR-ABL protein, a tyrosine kinase. This protein causes the affected cells to divide out of control. This disease occurs 1.6 per 100,000 people in a

From Cystic Fibrosis to Down’s Syndrome and Sickle Cell Anemia, there are tens of thousands of genetic disorders, with many more to be discovered. The fascinating thing about genetic disorders is that when we were born it’s a gamble whether or not we would come into this world with a genetic disorder. Although genetic disorders are quite rare and we take being born without one as granted, there are many out there that live with these disorders everyday. My research paper will focus on the specificalities of a few genetic disorders, the disorders presented in my paper are Marfan Syndrome, Hutchinson-Gilford Progeria, Cystic Fibrosis, and Sickle Cell Anemia. My paper will encompass important specifics

Trisomy 18, or Edwards Syndrome as it is more commonly known, is a genetic disorder in which there is a problem with cell division called meiotic disjunction. This disease is commonly associated with the well known Downs Syndrome which is also known as Trisomy 21. A disease with an unnatural number of chromosomes are is called a aneuploidy. Edwards Syndrome occurs when a child is born with an extra #18 chromosome. This occurs in about 1 in 2500 pregnancies and 1 in 6000 births. There is a high mortality rate for Edwards Syndrome, half of all children who are carried to term will be stillborn. With the survivors less than 10% will live to be a year old, boys also having a higher mortality rate. (Trisomy 18 Foundation 2013). In this paper I will be addressing key components to Trisomy 18 and looking more closely at a few cases of “long living” survivors. Specifically history, symptoms, diagnosis, screening and treatment will be examined.

Down syndrome is one of the most common genetic disorders in the United States with 1 out of close to every 700 births being linked to the disorder. When identifying the cause of Down syndrome, again we have to look at the extra, very important part of chromosome 21 that occurs in all or some associated with Down syndrome. Although there is no real scientific research showing that Down syndrome is caused by environmental factors or even the parents ' activities before or during pregnancy, research has shown that it increases in

Various test can be done in order to see if the foetus has Down Syndrome. The most common tests to look for Down Syndrome.

A child that is born with Down syndrome has a condition called trisomy 21. The term trisomy is described as the chromosomal error that results in a specific chromosome to have three copies. Therefore, in a case of Down syndrome, there are three copies of chromosome 21 in their DNA. A child with Down syndrome has a higher risk of hearing loss, heart abnormalities, and hypothyroidism.

Symptoms of down syndrome are the following Flat facial features, Small head, Short neck, Protruding tongue, Upward slanting eyes, that is unusual for the child's ethnic group, Unusually shaped or small ears, Poor muscle tone. Broad, short hands with a single crease in the palm, Relatively short fingers and small hands and feet, Excessive flexibility. Tiny white spots on the colored part or the iris of the eye called Brushfield spots, Short height. Infants and children with down syndrome may be average size at birth , but typically they grow slower and remain shorter

Marisna is a 39yo, G3 P2002, who is currently 21 weeks 0 days as dated by LMP using a due date of 04/25/17. This was consistent with her 1st ultrasound in your office that measured just slightly ahead with a due date of 04/18/17. She is AMA. She had a quad screen in your office that returned screen positive with an increased risk of Down syndrome of 1:100. This is close to what her age based risk would be. Open neural tube defect was screen negative. In reviewing her analytes, AFP was slightly elevated at 2.15 MoM and inhibin was borderline at 1.87 MoM. She was diagnosed with chronic HTN fairly early in her last pregnancy. She did not have preeclampsia with that pregnancy to her knowledge. The baby was quite small, as it weighed just over 4 lb at term. She was not on BP medication chronically, but coming into this pregnancy at 19 weeks her BP was elevated at 162/90 and she was started on labetalol. I cannot tell in the records if she had protein in her urine but she did have 2+ on her dip in our office today. She reports that she has collected a 24-hr urine last week, although we do not have those results. Because she entered care late, she is not on baby aspirin for the prevention of preeclampsia.

Down syndrome is characterized by three different types: trisomy 21 (nondisjunction), translocation, and mosaicism. The cause of Trisomy 21 is

How is this disorder diagnosed and treated?,the reason of this is because genetic disorder is caused by the presence of all or part of an extra 18th chromosome.However, John H. Edwards has