Lauren Thometz
November 11, 2014
Anatomy/Physiology 1
Research Paper
The Upside of Down syndrome
Down syndrome is a common chromosomal disorder that is caused by abnormal cell division resulting in extra genetic material from Chromosome 21. Down syndrome occurs frequently in that 1 out of 800 babies are born with this disorder. Those born with Down syndrome tend to experience specific physical characteristics, cognitive impairments, mental and medical help problems. Down syndrome is extremely special to me because I grew up with an aunt who has this disorder. My aunt Lisa is beautiful, funny, outgoing, and smart. She lives and enjoys life as it is thrown to her. Some days are harder than others, but she is 62 years old and refuses to let her disability hinder her life. Down syndrome is not who she is, but something she has.
Dr. John Langdon Down was an English physician who had a strong calling towards mental retardation and was the first to describe what he felt was someone with Down syndrome. He based his findings off of distinct characteristics. Before this syndrome got the name Down syndrome he used the term ‘Mongloid’ due to the similarities that were shared in the Mongolian race. It wasn’t until later when they determined the cause of Down syndrome, which is an extra chromosome. Therefore making Down syndrome a chromosomal disorder. This condition is characterized by a combination of major and minor differences in body structure. Typically, doctors are able to
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
A person with downs syndrome has extra chromosome. The defect usually involves the twenty first chromosome. With this chromosome defect you do not develop like the average human being. With Down syndrome you have a short body stature and your face has a very broad profile, the most noticeable way to tell if someone has Down syndrome is their ears and their eyes are aligned differently than someone who doesn’t have downs syndrome. When you are growing up with Down’s syndrome your speech develops much slower and it is much harder to annunciate your words. some over time can develop great speech and some
. 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
Also known as Trisomy 21, Down Syndrome is an illness due to which an superfluous genetic structure leads to delays in the manner in which a child’s mental and physical faculties develop.
Down Syndrome is a genetic disorder that occurs when a persons 46 chromosomes abnormally divides into 47 chromosomes, creating a full or partial 3rd copy of the chromosome 21.
Down syndrome is a disease in which chromosome 21 has extra genetic material delaying the way a child develops mentally and physically.
Down syndrome (known as Trisomy 21) is a genetic disorder caused when cell division results in extra genetic material from chromosome 21. This genetic disorder occurs in about 1 of 800 live births. Down syndrome was first characterized a separate form of mental disability by John Langdon Down in 1862. By the 20th century the disability had become the most recognizable form of mental disability. These individuals have gone through a lot. In ancient times, many infants with this disability were killed or abandoned. The people with Down syndrome used to be called Mongolian idiots and the syndrome was called mongolism. This comes from the people thinking that Down syndrome individuals resembled Mongolians. It doesn’t only affect the individual
Down syndrome is a genetic disorder and the most common autosomal chromosome abnormality in humans. Down syndrome occurs when an individual has a full or partial extra copy of chromosome 21. This additional genetic material alters of development and causes the characteristics associated with Down syndrome. The primary purposes of this article are to: establish the origin of the term Down syndrome; determine the possible causes of Down syndrome; Likelihood of having a child with Down syndrome; and treatments for humans diagnosed with Down syndrome.
Down syndrome is a genetic disorder that begins to develop at the cellular level after conception. All the cells in the human body contain a center, called a nucleus, in which genetic code of each human being is stored. This genetic material, known as genes, carries the codes responsible for all our inherited characteristics from the mother and the father. Genes are grouped along rod-like structures called chromosomes. The nucleus of each cell normally contains 23 pairs of chromosomes, half of which come from each parent. In Down syndrome, however, the cells usually contain not 46, but 47 chromosomes. The extra chromosome being a number 21. This excess genetic material, in the form of additional genes along the 21st chromosome, results in Down syndrome. Ninety-five percent of all cases of Down syndrome occur because there are three copies of the 21st chromosome; it is often referred to as "trisomy 21." Chromosomes are studied by examining blood or tissue cells. Individual chromosomes are identified, stained and numbered from largest to smallest. The visual display of the chromosomes is known as a “karyotype”. (Karyotype is the analysis of counting the chromosomes in each cell)
Down syndrome is a genetic defect attributed to an abnormality of the human chromosome 21. The National Down Syndrome Society (NDSS), a national advocate organization for the value, acceptance and inclusion of people with Down syndrome, notes that modern research has successfully identified three types of Down syndrome. The NDSS reports that Nondisjunction Trisomy 21, in which there are three copies of chromosome 21 instead of two, is the most common type of Down syndrome. Prior to or at the point of conception, a pair of 21st chromosomes in either the
Down syndrome is a chromosomal condition that affects 1in every 700 kids. Down syndrome is when a child has and extra copy of chromosome 21. Down syndrome has many ways of telling if the child has down syndrome, like physical features. You can also tell if a child has down syndrome based on how they act. There are different ways of obtaining down syndrome. Kids with down syndrome are no different than kids that were born with the normal set of chromosomes, they just act a little different and need a little bit more help.
Down syndrome is commonly known by the public as a disease that causes physical and mental disabilities in people. Down syndrome is known by the scientific community as a genetic disorder of the twenty-first chromosome. As a result of this genetic disorder other systems of the body are also affected, this includes mental and physical disabilities. Down syndrome “is a lifelong condition… that happens before birth” (WebMD, 2015). According to the National Down Syndrome Society one in every 691 babies are born with the condition (NDSS, 2015). In order to understand this condition it is
There were specific misconceptions that I had on Down syndrome. First the unique characteristics of an individual. For example research stated that people Down's syndrome features are: flat facial features, small nose, upward slant of eye, small abnormally shaped ears, skin fold on back neck, and enlarge tongue that stick out (power point slide). Previously, I was aware that some people with Down syndrome shows atypical features, nevertheless I wasn't sure that everyone with this disorder have a dysfunction face features. Moreover, the normality of birth, is that a person is born with forty-six chromosomes, and a person with Down syndrome is born with forty-seven chromosomes-that extra one chromosome brings unfortunate face features. Second,
Every person with Down Syndrome is different. Both developmental and intellectual problems can go from mild to moderate. Some individuals can be completely healthy, whereas others can suffer from serious health issues such as heart defects. Not every child with Down Syndrome has the same characteristics although some are more common than others such as a distinct facial appearance. ("Down syndrome Symptoms - Mayo Clinic",
Down syndrome is a genetic disorder that affects a person’s facial features and intelligence. Down syndrome is also commonly known as Down’s syndrome, Trisomy 21, Trisomy G, 47,XX,+21, or 47,XY,+21. In 1866, English physician John Langdon Down is known as the “father” of Down syndrome. He was given that title for his publication of an accurate description of a person with Down syndrome, hence the reason why the disorder was named after him; although, this disorder was known as “Mongolism” until the 1970s. More information was learned about Down syndrome in 1959 when French physician Jérôme Lejeune identified that the disorder was caused by a chromosomal error. Then in 2000, a team of scientists was able to classify roughly 329 genes on chromosome 21, opening the door to many more advancements in the world of research for Down syndrome.