The presence of an extra chromosome is prevalent in plants but rare in animals. Diploid human cells contain 46 chromosomes, 44 autosomes and two sex chromosomes namely XX in females and XY in males. At mitotic metaphase, each of the chromosomes can be recognized by its size, shape and banding pattern. However, there could be non-disjunction of chromosomes during the process of meiosis, and as a result, one of the cells may receive an extra copy of the chromosome resulting in a condition called trisomy. One of the most common chromosome abnormality in humans is Down Syndrome, a condition associated with an extra chromosome 21. This condition was first described by British physician, Langdon Down (Web. Down Syndrome, n.d.).
Symptoms
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One of the main reasons for the increase in the number individuals with Down Syndrome is that women are more career oriented and are starting families later in life. Women of 40 years of age have a 16 percent more chance of having a baby with Down syndrome as compared to a woman of age 25. (Web. Down's Syndrome cases soar as women delay starting a family, 2009).
Current Knowledge Trisomy 21 is a result of chromosome non-disjunction in one of the meiotic cell divisions. The non-disjunction event can occur in either parent, but more likely to occur in females. Congenital birth defects are difficult to treat but with the prevalence of Down Syndrome, numerous research projects are being carried out by Down Syndrome Research and Treatment Foundation (DSRTF). Some of the studies are as follows:
1. Balancing Excitation and Inhibition- the project deals with the exploration of neural circuits that are responsible for the memory and learning of the individual, using excitatory and inhibitory inputs. The study is carried out using numerous subtypes of GABA-A receptors. Roche, an international pharmaceutical company in September 2011, initiated Phase-I clinical trials for a drug employed to assess the protection and permissibility of the particle intended to deal with the behavioral and cognitive discrepancies related to Down Syndrome (Web. Active Research Projects,
Children born to older parents are at greater risk for genetic abnormalities, such as Down syndrome. No one knows what causes the chromosomal abnormality that results in Down syndrome, a condition according to the National Association for Down syndrome, affects one in 800 to 1,000 babies in the United States. Any woman regardless of her culture, race and socio-economic status can have a baby with Down syndrome. However, a mother’ age seems to be a unifying factor among children with Down syndrome. Older women have a greater chance of giving birth to a baby with Down syndrome, and the risks increases with every passing year. The National Association for Down syndrome estimates the chance of
The etiology of Down syndrome is due to a genetic mutation within chromosome 21. There are three types of Down syndrome, which include Trisomy 21, Mosaic Down Syndrome, and Translocation Down Syndrome. Trisomy 21 occurs when there are three copies of chromosome 21 in each nucleus, instead of the usual two. This type of Down syndrome occurs 95% of the time. Mosaic Down Syndrome occurs 1% of the time and is characterized by some cells having three pairs of chromosome 21 and others having the normal two. This is caused by abnormal cell division after
While nothing done before or during a pregnancy can cause Down syndrome a diagnosis can be available as early as pregnancy. An amniocentesis (thin needle inserted through the mother’s abdomen into the placenta) performed by a medical professional can easily identify the chromosomal abnormality or after birth with a simple blood test performed on the newborn. The earlier a diagnosis is made, the earlier parents can begin processing and using all the available resources to educate themselves on raising a child with Down syndrome. Parents will be able to gain the knowledge needed so that their child can receive the appropriate therapy and participate in activities that have been designed especially for this exceptionality, activities, which are geared to expand cognitive, social, emotional, and intellectual capacity.
There are three forms of Down Syndrome. These three are Trisomy 21, Mosaicism, and Translocation. Trisomy 21 is where there is an extra copy of Chromosome 21 in every cell. Mosaicism is where only some of the child’s cells have an extra copy of Chromosome 21. Translocation is where only one of the 46 total chromosomes has an extra Chromosome 21 where part of Chromosome 21 gets attacked to another chromosome during the formation eggs and sperm, or early in the development of the fetus. Mosaicism and Translocation usually have less symptoms that Trisomy 21. Only translocation Down Syndrome can be inherited by an unaffected parent. Trisomy 21 is because of an abnormality in the reproductive cells, and mosaic Down Syndrome is just a random event that occurs early in fetal development. A baby receives 23 chromosomes from each parent, but with a Down Syndrome child, they receive extra chromosomes. When the Chromosome 21 is supposed to split into two chromosomes, the chromosome does not separate properly and they get three Chromosome 21. So as the brain and physical features develop, problems occur. Down Syndrome affects 1 in 800 newborns. Each year in the United States, 5,300 babies with Down Syndrome are born, and 250,000 people have this condition in
It is caused by a random error in the cell division process which results in the presence of an extra copy of chromosome 21. In fact, people with down syndrome typically have no history of this disorder in their family. Only about 10% (U.S. National Library of Medicine) of people with this syndrome inherit the chromosome abnormality from an unaffected parent. In these instances, the parent carries a chromosomal rearrangement called a balanced translocation, in which no genetic information is gained or lost. Nevertheless, they can become unbalanced as they are passed to their children, and can either have extra or missing genetic material in their
Also known as trisomy twenty-one is a genetic disorder caused by the presence of all or part of a third copy of chromosome twenty-one. It is associated with physical growth delays, characteristic, facial features, and intellectual disability. Down syndrome is one of the most common chromosomes and abnormalities in humans. Those with Down syndrome nearly always have physical and intellectual disabilities. As adults their mental abilities are typically similar to an eight or nine year old. They typically have poor immune function and generally reach developmental milestones at a later age. They have an increased risk of a number of other health problems, like congenital heart disease, epilepsy, Leukemia, thyroid disease and mental disorder. People
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.
Down syndrome is sometimes called trisomy 21. This results from a chromosome disorder that results in an extra chromosome or a part of a third chromosome within the cells of a person (Blackman, 1990). “It was first identified by John Langdon Down in 1866” (Carr, 1995, p.1). Down syndrome causes learning disabilities, developmental delays, and health problems that can be very severe.
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.
First type of Down syndrome is called Trisomy 21. This Down syndrome is caused by errors in cell divisions called “nondisjunction.” Nondisjunction results in an embryo with three different copies of chromosome 21 instead of usual two. A pair of 21st chromosomes are in either the sperm or the egg fails to separate. While the embryo develops, extra chromosomes are replicated in every cells of the body. The type of Down syndrome accounts for 95% of cases, known as trisomy 21. The second type of Down syndrome is mosaicism. Mosaicism is a diagnosed where a mixture of two cells, some containing the usual 46 chromosomes and some contain 47. Some of those cells with 47 chromosomes contain an extra chromosome 21. This is the least common form of Down syndrome and accounts of for only 1% of all cases of Down syndrome. Researchers has indicated individuals with mosaic Down syndrome may have fewer characteristics of Down syndrome than those with other types of Down syndrome. The last type of disease is translocation. In translocation, accounts of 4% of cases of Down syndrome, total number of chromosomes in the cells remain 46; however, an additional full or partial copy of chromosome 21 attaches of another chromosome, usually known as chromosome 14. This presence of extra full or partial chromosomes causes characteristics of Down
To begin ,Down syndrome is a chromosomal disorder that results when a person inherits all or part of an extra copy of chromosome 21. This can occur in a variety of ways, the causes of which are unknown. The most common chromosomal abnormality that produces Down syndrome (accounting for 95% of all cases) is Trisomy 21, a defect in which an extra, third copy chromosome is present in every cell in the body. According to Parenting Magazine the number of Down syndrome births is relatively low for 18-yr-old mothers—1 in about 2100 births. In the later childbearing years the risk in creases—1 in 1000 births for 30-yr-old women to 1 in about 100 births for 40-yr-old women. Two other chromosomal abnormalities cause Down syndrome and occur in about
Down’s syndrome (DS), also called Trisomy 21, is a condition in which extra genetic material causes delays in the way a child develops, both mentally and physically. The physical features and medical problems associated with Down’s syndrome can vary widely from child to child. While some children with Down’s syndrome need a lot of medical attention, others lead healthy lives. Though Down’s syndrome can 't be prevented, it can be detected before a child is born. The health problems that may go along with Down’s syndrome can be treated, and many resources are available to help children and their families who are living with the condition. (http://kidshealth.org)
syndrome. This disease is named after John Langdon Down, who was the first physician to tell about the disease systematically. This disease sometimes referred to as 47 or trisomy 21, is a very serious life altering disease. Down syndrome is caused by an extra or partial chromosome 21,which is called nondisjunction. Nondisjunction happens when chromosomes are distributed incorrectly during egg and sperm formation. Most body cells contain 23 pairs of chromosomes, 23 chromosomes from each parent, adding to 46 chromosomes. When you have an extra chromosome it adds to 47, causing down syndrome. When the egg meets the sperm to form a normal embryo, the embryo gets three copies of chromosome 21. After that the chromosome is copied to each cell as the baby develops. In some rare cases down syndrome is cased by Robertsonian Translocation. This is when the long arm of the chromosome 21 break off and attaches itself to another chromosome at the centromere. People which have such a translation will not have down syndrome, but can have children with down syndrome. There is only one chromosome affected by this horrendous disease. Down Syndrome controls several aspects of the human body. Chromosomes play an extremely important role in human life. Chromosomes are the blueprint of genes, which is human life. Having a disability
Throughout the article, Davis reviewed the three possible etiologies as to why there is an extra chromosome 21, which is the contributing factor for causing Down syndrome. One common etiology occurs when an extra chromosome is intentionally developed because of the egg or sperm. As a result, the fertilized egg contains three chromosome 21 rather than two. Another reason for this disorder is “mosaic trisomy,” which occurs in 2-4% of individuals that have Down syndrome. Mosaic trisomy occurs when some cells have 46 chromosomes while others have 47 chromosomes (Davis). The third possible reason for this deficit is “translocation trisomy” which occurs in 3-4% of cases whom have Down syndrome. This process occurs during or after conception when chromosome 21 “sticks” to another chromosome. As a result, individuals with Down syndrome have two chromosomes 21, while leaving additional material on the translocated chromosome (Davis).
The extra chromosome in trisomy 21 results in overexpression of the genes. Although overexpression is not noticeable in many genes, the genes that are involved in Down syndrome seem to be quite different. In fact, not even all of the genes in the 21st chromosome need to be tripled to result in Down syndrome. There are approximately 250 genes in the 21st chromosome, and only 20 to 50 genes need to be involved in the nondisjunction to cause the effects of trisomy 21. The small area within the cell where genes need to be to cause Down syndrome is called the Critical Region. (3).