Trisomy 21

597 Words2 Pages
bulb-icon

Recommended: Abstract paper on effects of down syndrome

When someone has three chromosomes in chromosome 21, it means you have Down syndrome. I know that the gene mutation in the picture is Down syndrome because when you have three chromosomes present, people tend to use the term "trisomy," which is also known as Down syndrome. Down syndrome a genetic disorder that affects not only the child or person with it, but also everyone else. Down syndrome is a mental and physical genetic disorder that is very rough on someone. Down syndrome is a disorder that comes with some defects, such as in the face, heart, sight, and hearing, and other health related problems. It also is the most common genetic defect, affecting many babies. Down syndrome is caused when the chromosomes are being divided during meiosis the cell keeps both copies of chromosome #21, which means the person with Down syndrome has an extra copy in every cell in their body. This is a sad genetic disorder that can change a person's life. Even though it is a devastating gene mutation, the people with Down syndrome are some of the most loving of all people. People who are born wit...

Show More
Related

  • The Hereditary Disease of Tay-Sachs Disease

    534 Words  | 2 Pages

    Tay-Sachs disease is a rare hereditary disease found mainly in infants but is also found in juveniles and adults. It is caused by the abnormal metabolism of fats and is characterized by mental deterioration, blindness, and paralysis. There is no available treatment for this disease.

    Read More

  • Genetic Disorders in Twins

    2026 Words  | 5 Pages

    Twin studies have been used to distinguish between genetic and environmental factors for many disorders in the general population including ectodermal dysplasia, Ellis-van Creveld, and anencephaly. This review focuses on genetic disorders affecting monozygotic, dizygotic, and conjoined twins to gain a better understanding of them. Many studies focus on twins because they have a nearly identical genome, which eliminates environmental factors. In case studies, the concordance rates in monozygotic twins have supported that certain disorders were caused by genetics and not the environment. The discordant values in twins will also be evaluated briefly. Twinning studies have also shown linkages between specific disorders and the genes responsible for them. Knowing the location of these genes allows patients to be treated quickly and efficiently. This paper will discuss the possible causes of twinning and the various methods of identifying abnormalities in twins. These methods also allow preventive measures against the rise of birth defects during prenatal development. Epigenetics in twins is also viewed through the perspective of effects on them. Treatments for genetic disorders in twins are reviewed, ranging from the restoration of malformed teeth to the separation of conjoined twins. Support groups for twins in treatment, and their families are also briefly reviewed.

    Read More

  • Turner's Syndrome

    949 Words  | 2 Pages

    Turner’s Syndrome, which is one of the most common chromosomal abnormalities, is defined as “a syndrome with a chromosome count of 45 and only one X chromosome.” Turner’s was first described in 1938. Henry Turner, an endocrinologist from Oklahoma City, was the first to discover this syndrome. He was curious about why seven of his female patients, six adolescents and one adult, who he was treating for dwarfism and lack of development, were not responding to the treatments. He described the women as not matured, with short necks and low hairlines in the back, and an increased angle at which the elbow was bent. After many tests, the results showed that all of the women were missing an X chromosome.

    Read More

  • Tay-Sachs Disease

    581 Words  | 2 Pages

    Tay-Sachs disease is a genetic disorder, eventually leading to death of the inflicted. Genetic diseases have to do with mutations in one or more than one of the genes located on a person’s chromosomes. In the case of Tay-Sachs, it is a mutation of an autosomal chromosome, specifically chromosome #15 (ncbi.nlm.nih.gov). The mutated gene is the Hex-A gene, which codes for the production of the enzyme beta-hexosaminidase A (see picture A) (ghr.nlm.nih.gov).

    Read More

  • Tay-sachs Disease

    692 Words  | 2 Pages

    Tay-sachs disease is perhaps a very dramatic disease because it strikes most keenly at small children and babies. The disease is very rare and fatal. Tay-sachs is a genetic disorder in which harmful amounts of fatty lipids, known as ganglioside GM2, is built up in the nerve cells in the brain. Infants who with Tay-sachs disease, who are not carriers, appear to develop normally for the first few months since their birth, but as the nerve cells become swollen with the fatty material, a severe decline of mental and physical abilities occurs. The child then becomes deaf, blind, and unable to swallow.

    Read More

  • Turner syndrome

    1109 Words  | 3 Pages

    There are many possible reasons why a child may grow slowly, including: hereditary factors (short parents), diseases affecting the kidneys; heart, lungs or intestines; hormone imbalances; severe stress or emotional deprivation; infections in the womb before birth; bone diseases; and genetic or chromosomal abnormalities. The Turner Syndrome (known as Ullrich-Turner Syndrome in Germany) is a congenital disease. A German doctor named Ullrich published his article in 1930. American doctor Henry Turner recognized a pattern of short stature and incomplete sexual maturation in otherwise normal females.

    Read More

  • Tay Sachs Disease

    1038 Words  | 3 Pages

    Imagine that there is a disease that is terrible and causes trouble for you every day, there is no cure, there is only the dragging on of day after day. This is Tay Sachs Disease, it is a disease that is lifelong, that is, unless it kills you early on in life. This disease has lots of symptoms. These symptoms are a result of how the disease affects the brain and its functionality. This disease is an inherited disease, and is known as a serious genetic disease.(“Health and Wellness Resource center and Alternative Health Module”). This disease is a autosomally recessive disease that is caused by a defect in the HEXA gene which provides instructions for making part of an enzyme called beta hexosaminidase A, which is critical in the brain and spinal cord. (“Health and Wellness Resource center and Alternative Health Module”). This enzyme helps to break down GM2 or ganglioside, which without the enzyme to break it down, accumulates to toxic levels in the brain causing serious, life-threatening complications.(“Student Resources in Context Tay-Sachs “World of Health.Gale,2007.Student Resources in context.Web.22 May 2014”). Three type of this disease are Infant and Juvenile Tay Sachs, Chronic Tay Sachs, and L.O.T.S which is similar to chronic, but occurs later in life.(“Student Resources in Context Tay-Sachs “World of Health.Gale,2007.Student Resources in context.Web.22 May 2014”). Infant and Juvenile result in death while Chronic and L.O.T.S result in a life filled with muscular weakness, and trouble doing everyday activities.(“Health and Wellness Resource center and Alternative Health Module”). Tay Sachs can be spotted before the parents have children by either both admitting to a blood test or if they have a CVS, or Chorionic Villus ...

    Read More

  • cotards syndrome

    623 Words  | 2 Pages

    The walking dead does in fact exist. However, it is not the flesh eating zombie that many think about when hearing the term ‘walking dead.’ Instead, it is a rare and serious mental disorder also known as Cotard’s Syndrome. “In 1880, Jules Cotard (1840-1889) described the syndrome that bears his name as a constellation of false nihilistic beliefs, often in the form of self-negation.” (Ramirez-Bermudez, Aguilar-Venegas, Crail-Melendez, Espinola-Nadurille, Nente & Mendez, 2010) Throughout time there has been many controversies regarding what causes this disease. Cotard’s Syndrome was finally divided into three groups in 1995 as psychotic depression, Cotard’s Syndrome Type I, and Cotard’s Syndrome Type II.

    Read More

  • Beta Thalassemia

    1248 Words  | 3 Pages

    Out of the various amounts of genetic blood disorders in the world, Thalassemia is one of the more common known diseases. Thousands of infants with beta thalassemia are born each year. There are two different types of thalassemia related problems, alpha thalassemia, and beta thalassemia. The differences between the two types of thalassemia lie in the hemoglobin chain that is affected. For this paper the focus will be on beta thalassemia. Beta thalassemia is divided into three subcategories. The forms are thalassemia minor, thalassemia intermedia, and thalassemia major. The topics relating to beta thalassemia that are going to be explored are inheritance patterns, genes, mutations and proteins involved with Beta Thalassemia.

    Read More

  • A Life-Threatening Genetic Disorder in Cystic Fibrosis

    2633 Words  | 6 Pages

    There are recurrent episodes of overeating in which large amounts of food are consumed in a short period of time.

    Read More

  • Down Syndrome Children: Is Their Play Appropriate for the Environment?

    1368 Words  | 3 Pages

    From society's perspective, Down syndrome children have become a serious complication in the world. Disabled children with special needs like Down syndrome are not given the directed attention needed for appropriate treatment. In 1862, John Langdon Down characterized Down syndrome as a separate form of mental disability but he broadened his research in 1866. By the 20th century, Downs has become the most recognizable form of mental disability in the world because of the physical characteristics that distinguish their disability (Patterson, 137). Some symptoms include a small-flattened face, bowlegs in some cases, and generally, their tongue is too big for their mouth so it usually hangs outside of their mouth as well as other physical characteristics exemplifies a Down syndrome child (Wedro). Down syndrome, Downs or DS, occurs in children who have an "extra copy of chromosome 21." Ninety-five percent of Down syndrome cases are Trisomy 21 (nondisjunction), four percent are translocation, and one percent is mosaicism. There are roughly 400,000 cases of Downs in the United States toda...

    Read More

  • Reye Syndrome

    1068 Words  | 3 Pages

    Syndrome cases occur in people over the age of sixty, the elderly are often the

    Read More

  • Understanding Down Syndrome

    2950 Words  | 6 Pages

    Down syndrome, also known as “trisomy 21” is a genetic condition in which a child is born with an extra chromosone which causes certain features and delays in development. In sexual reproduction (meiosis) the new cell will have half of the mothers chromosones 23 and half of the fathers chromosones 23 to make a total of 46 (23 pairs) in the new cell (zygote). In a child with Down Syndrome, they will have an extra chromosone 21 making a total of 47 chromosones. There is no specific reason why this extra chromosone is present, but the older the mother is when giving birth, the more likely that her baby will have Down syndrome. Down Sydrome is named after John Langdon Down, the first person to describe the condition in 1866.

    Read More

  • Essay On Down Syndrome

    2529 Words  | 6 Pages

    It is a well known fact that all living things, humans included, are made up of cells. The nucleus of a typical cell in the human body is made up of 23 pairs of chromosomes. Half of the pairs come from each parent. In some individuals there is a full or partial extra copy of chromosome 21 present; these individuals have Down Syndrome (National Down Syndrome Society). Down Syndrome is a genetic disorder that most people know very little about. Since Down Syndrome is something that very few people know much about, this paper will include a lot of information about the disorder that is not well known to the general public. In this paper I will discuss what exactly Down Syndrome is and provide background information and history, describe how and when the disorder is diagnosed, provide insight of what life is like for a person with Down Syndrome and I will do my best to clear up many misconceptions that people often have about individuals with Down Syndrome.

    Read More

  • Jerome Lejeune

    671 Words  | 2 Pages

    Down syndrome is a disorder that can be the cause of problems in social skills or learning abilities, as well as different physical appearances. This disorder has been very common for years, but when it was first discovered, scientists did not know what caused Down

    Read More

More about Trisomy 21

Open Document