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Recommended: Turner syndrome
Turner Syndrome was named after a U.S. physician Henry H. Turner. He identified this disorder in 1928 and described the features in the 1930s.
Turner Syndrome, also known as Gonadal Dysgenesis, is a genetic condition, when a female does not have the usual pair of two X chromosomes. It is a chromosomal condition that affects the development in females. This is usually caused by non-disjunction. Other causes of TS cells are missing all or part of an X chromosome. Another words instead of XX or XY, it’s an XO chromosome. The missing X, or Y, Chromosome of TS causes errors during fetal development and other problems after birth. Swollen hands, low hairline, short height, these are just a few effects of TS. People who have TS are infertility.
18. a) Explain the process of nondisjunction can result in an individual with Klinefelter syndrome. Create a diagram showing the disjunction occurring in the mother to help explain your answer. Individuals with Klinefelter syndrome have XXY chromosomes, and can occur when during the prophase of meiosis I, in females there is nondisjunction of X chromosomes. This results in a male with trisomy. One egg can have no X chromosomes and the other could receive both X chromosomes.
Sex-linked disorders only affect males and are passed down through female carriers. A boy inherits the disorder when he receives an X chromosome with a mutated dystrophin gene (the genetic cause) from his mother. The dystrophin gene is the largest gene found in nature and was identified through a positional cloning approach. It's a highly complex gene, a large rod-like cytoskeletal protein which is found at the inner surface of muscle fibers. (www.ncbi.nlm.nih.gov)
Munchausen syndrome was named by the British physician Richard Asher in 1951, who wrote "Like the famous Von Munchausen, the persons affected have always travelled widely; and their stories, like those attributed to him, are both dramatic and untruthful. Accordingly the syndrome is respectfully dedicated to the Baron, and named after him. The patient showing the syndrome is admitted to hospital with apparent acute illness supported by plausible and dramatic history. Usually his history is largely made up of falsehoods; he is found to have attended, and deceived,...
Duane Syndrome is an inherited unusual type of strabismus (squint) most often described by the incapability of the eye(s) to move inwards, outwards individually or together. This was first reported via ophthalmologists Jakob Stilling in 1887 and also Siegmund Türk in 1896. The syndrome was named after Alexander Duane, who explained the disorder more specifically in 1905. The syndrome is described as a miswiring of the eye muscles, causing eye muscles to tighten when they don’t need to and other eye muscles not to tighten when they need to. Very often patients get the syndrome by the age of 10 and it is more common in females (60% of the cases) than males (40% of the cases). Although the eye is usually the abnormality associated with Duane Syndrome, there are other bodily functions that can be affected. Duane syndrome cannot be cured, because the cranial nerve is missing and it cannot be replaced. The gene known as “SALL4” has been associated as a cause of this condition.
A genetic disorder is a sickness caused by one or many abnormalities or absentees in the genes or chromosomes. One interesting genetic disorder such as cancer, are found genetic but, can also be caused and affected by many by environmental factors such as being exposed to asbestos which may increase the risk of lung cancer and many other cancers. While on the other hand most disorders like Williams Syndrome are genetic and are primarily rare and only affect a limited amount of people about one in every several thousand. Because it is a genetic disorder that is estimated between 1 in 10,000 people worldwide, primarily caused by a micro-deletion on the seventh chromosome is what indicates the disorder being Williams Syndrome.
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.
Polycystic Ovaries Syndrome can cause a number of symptoms. Its can cause everything from obesity to missed periods. It also causes women to have more of the male hormone in their bodies, which cause male hair growth. Not all of PCOS patients have excessive hair growth some may have other skin conditions, like acne. PCOS is the one of the most notorious cause if missed menstrual cycles and “infertility due to the lack of ovulation”. (Thatcher, 12)
OTHER NAMES Depending on the doctor, Turner's Syndrome may be diagnosed with one of the following alternative names: 45 - X Syndrome, Bonnevie-Ulrich Syndrome, Chromosome X, Monosomy X, Morgagni- Turner-Albright Syndrome, Ovarian Dwarfism, Turner Type, among others. SYNDROME CHARACTERISTICS A reduced growth in height is the commonest visible characteristic of the syndrome, (the average adult height is 4 feet 8 inches) and may be the only sign before puberty. Their body proportions are normal.
. Other mistakes that can occur during meiosis include translocation, within which a part of one chromosome becomes connected to another, and deletion, in which part of one chromosome is lost entirely. The severity of the results of those disorders depends entirely on the dimensions of the chromosome fragment concerned and, therefore, the genetic data contained in it. Modern technology will find these genetic abnormalities early within the development of the foetus, however at the moment, very little will be done to correct or perhaps treat the diseases ensuing from
Jacob Syndrome is a rare condition where males contain an additional copy of the Y chromosome in their cells. According to the Genetic and Rare Diseases Information Center, (GARD, 2012), other names for Jacob Syndrome include: 47, XYY syndrome, XYY Karyotype, and YY syndrome. Statistics from Genetics Home Reference (2014) state that Jacob Syndrome appears in approximately 1 in 1,000 male newborns. In the United States, 5 to 10 male newborns have Jacob Syndrome.
It is associated with a higher risk of pregnancy complications and certain ovarian cancers. Due to the importance of this condition, it is critical that patients understand its causes, symptoms, and treatment. By the end of this article, you will have the answers to these essential questions:
Most cases of Down syndrome are not inherited. When the condition is caused by trisomy 21, the chromosomal abnormality occurs as a random event during the formation of reproductive cells in a parent. The abnormality usually occurs in egg cells, but it occasionally occurs in sperm cells. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 21. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra chromosome 21 in each of the body's cells.
of serious impairment. Down syndrome is caused by an extra chromosome 21. It also causes
Chromosome abnormalities happen when there is something wrong in the cell division, two kinds of cell division is mitosis and meiosis. Mitosis is the process where two daughter cells each having the same number and kind of chromosomes as the parent nucleus split into identical cells, they undergo this change through four phases. These phases are called Prophase, Metaphase, Anaphase, and Telophase. Meiosis is where the daughter cell has one half the numbers of chromosomes as the parent cells and involves the divisions of two cells and therefore produces four daughter cells. Meiosis undergoes the same phases as Mitosis but undergoes two times. “In both processes, the correct number of chromosomes is supposed to end up in the resulting cells. However, errors in cell division can result in cells with too few or too many copies of a chromosome. Errors can also occur when the chromosomes are being duplicated” (Genome).