are used to having, this family has the five fish dinner, which is a tradition within the Italian culture. As far as socioeconomic status goes, the Smith family would fall into the middle class family. The Smith’s live in a rural small town that is about 15 miles north of Punxsutawney, Pennsylvania. The population size was approximately just over 2,000 people at the last census. When asked if they like living in this area Tammy answered, “Yes we do. When tragedy strikes we all pull together. We are one big family and I wouldn’t want to raise my family anywhere else.”
Callie Smith was born with down syndrome or commonly referenced as downs syndrome. Tammy defined down syndrome as a genetic disorder which has a third copy of the chromosome
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 a genetic disorder that numerous individuals around the world suffer from; it is an intellectual disability that is caused by having one too many chromosome 21 copies, trisomy 21. The average person has two copies of chromosome 21 in each cell, whereas, an individual with Down syndrome has an extra copy of chromosome 21. This happens when either the sperm or egg cell undergoes atypical cell division during development. In the United States, there are approximately 400,000 individuals who have been diagnosed with Down syndrome, according to the last census in 2012 (National Down Syndrome Society).
Trisomy 21 stands for a genetic disorder caused by the presence off all or part of a third copy of a chromosome.
Down syndrome is a disorder that occurs when an individual has an extra copy of chromosome 21. This can result in learning disabilities and physical abnormities. People with Down syndrome usually have similar trait characteristics; upward slant to the eyes, small stature, low muscle tone, and a deep crease in the center of the palm. It is easy to recognize people with Down syndrome because it is written on their face. This can make people easily to assume that people with Down syndrome are different than us, because they look different. Although Kellyn has Down syndrome, it does not
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.
After trying for many years, a woman was successful in becoming pregnant. As a component of one of her routine pre-natal appointments, she was tested for fetal abnormalities. A blood test confirmed that her baby has Down syndrome and her physician recommended aborting the fetus. Down syndrome is a chromosomal abnormality that leads to intellectual disability, weak muscle tone and a unique facial characteristic. Down syndrome children often have increased risks for heart defects and other medical conditions such as gastric reflux. Taking care of a child with Down syndrome can be both mentally and physically exhausting. Taking care of a child with Down syndrome can be equally rewarding.
The genetic disorder of Trisomy 21, or Down syndrome is one that has often interested me. I understand that many children born with his genetic disorder can in fact live a full life, often with assistance. When answering the question of what exactly Down syndrome is, a good definition can be one describing this disorder as a genetic condition where a person has an extra 21st chromosome. The typical person has 46 chromosomes, therefore the person born with Down syndrome has 47. This extra chromosome brings with it some physical and cognitive characteristics that include mild to severe cognitive delay, low muscle tone, stunted growth, an easily identifiable upward slant to the eyes, generally a deep crease across the center of the palm and the appearance of a flat face. We have to keep in mind however, that each person with Down syndrome is an individual and might have some of these characteristics to different degrees, or possibly none at all.
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.
away and attach itself to another chromosome. The last 1% is made up of those
Down syndrome is a genetic condition not an illness or disease. Us humans are made up of millions of cells with 46 chromosomes in each cell, Down syndrome occurs when you have an extra chromosome 21 this is why this condition is also known as Trisomy 21. Down syndrome is not specific to any race or religion, Down syndrome can occur to anybody although the amount of people in Australia with Down syndrome is significantly lower to other Countries around the world.
There are three types of types of Down syndrome, with the most prevalent one being Trisomy 21 (www.ndss.org). The other two are Translocation
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
known risk factor is advanced maternal age-at age 35, a woman has 1 chance in
. 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
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.