Cytogenetics

A-T Questions A. Who first discovered the genetic disorder or autoimmune disease? How was it discovered? Answer: In 1866, Doctor John Langdon Down. He first described Down syndrome as a disorder, but he misunderstood how Down syndrome arises. The cause of Down syndrome was rather recently discovered in 1959. Down syndrome is a genetic disorder and most common cause of cognitive impairments. B. Is the disease state recessive or dominant? Explain your answer. Answer: The disease isn’t a

Approximately three to four percent of babies born every year are born with some kind of genetic disorder. A genetic disorder is described as an illness caused by an error in one’s genome, and is usually hereditary. To understand how these errors occur, one must first understand the basic concept of genes. Genes are the basic units of heredity and are made up of pieces of DNA that instruct the cell how to make specific proteins. Humans are estimated to have about 20,000 to 30,000 genes in their genome

Introduction Named after Henry Turner, who in 1938 was one the first doctors to report his discovery in the medical literature on this disorder, Turner Syndrome (TS) also known as monosomy X. Turner Syndrome is caused by the complete or partial loss of one of the X chromosomes resulting in 45X chromosomes. This disease affects only girls and women. It is one of the most common chromosomal disorder and likely the most common genetic disorder of females (National Organization for Rare Disorders

Down syndrome is a congenital disorder resulting from a chromosome defect. Down syndrome affects people of all ages, race, and economic status. It causes an increased risk of health problems and developmental issues. Researchers have found that centuries ago there were people who seemed to depict the same features of those with Down syndrome today. In 1866, John Langdon Down was the first to identify Down syndrome as a disorder. Before he described it as a disorder, those with Down syndrome

Cells are the basis for human life. During conception, a sperm cell joins a fertile egg to begin the process of procreation. Contained in the nucleus of these cells are a threadlike structure made up of acids and proteins called chromosomes which carry genetic information. Each human cell contains 23 pairs of chromosomes in each cell for a total of 46 chromosomes (Wiseman et al., 2009). When a sperm cell with 23 chromosomes and an egg with 23 chromosomes unite, they begin to form a fetus with appropriate

Down Syndrome They used to be called "Mongoloids," an ethnic insult coined by John Langdon Down, an English physician during the nineteenth century. But now they are known as people, individuals with a condition known as Down syndrome. (3). It wasn't until the 1960s that Jerome Lejeune and Patricia Jacobs discovered the cause of Down syndrome (also called trisomy 21). But with technological advancements within the scientific community, more and more information has been gathered about the

Nicole is sitting in the doctor’s office for the first time. She is waiting patiently as the small round clock in the corner of the room ticks away at a snails pace. She suddenly hears footsteps coming from the other side of the door. Nicole puts her sweaty palms together as she sees the doctor enter the room with some blue papers in his hands. The doctor quickly looks at Nicole then turns away clearing his throat, “I have examined the test results that we just completed; you are pregnant but there

Turner Syndrome Shinji Lin December 15, 2015 Period 5 Turner syndrome is a chromosomal disorder that affects development in females. This condition is caused by a missing or incomplete X chromosome. In 1938, Henry Turner, an American endocrinologist, described seven women with short stature, lack of sexual development, neck webbing (extra skin on neck), low hairline, and cubitus valgus (arms that turn out at the elbow). Years earlier, Otto Ullrich, a German geneticist, independently described

Brief History: Until the mid-twentieth century, Down Syndrome was considered a mysterious genetic condition that not many scientists or common people could understand or accurately describe. More specifically, members of the society realized that people with Down Syndrome were different — but they could not distinguish or diagnosticate the characteristics or the causes of the condition. Although that is true, scientists and doctors like Jérôme Lejeune, Jean-Étienne Dominique Esquirol, and Édouard

Down Syndrome is the most common genetic disorder in the United States. It was first described in 1866 by John Langdon Down. The actual cause of Down Syndrome or Trisomy 21 was discovered in 1959. In the United States 1 in every 800 kids will be diagnosed with Down Syndrome. That's about 6,000 kids born with down syndrome every year. The life expectancy of people with Down Syndrome varys. In 1910 a baby with Down Syndrome wouldn't live until 10 years old, but today someone with Down Syndrome can