Saturday, December 28, 2019

A Study On Turner Syndrome - 1724 Words

Turner syndrome, also known as Monosomy X, is caused by the deletion of the second X chromosome in females. This can be a partial deletion or a complete deletion. It is caused by a random error called nondisjunction, which is â€Å"the failure of sister chromatids to separate during or after meiosis† (Biology Online, 2008). This can lead to an abnormal amount of chromosomes. In this case, it leads to an abnormality in the sex chromosomes leaving the woman with one functioning X chromosome. While the specific genes that cause Turner syndrome are unknown, researchers â€Å"have identified one gene called SHOX that is important for bone development and growth† (National Library of Medicine, 2013). It is believed that a missing SHOX gene is the reason behind the female’s short stature and skeletal abnormalities. Due to the random nature of this syndrome, it is usually not inherited or passed down. The loss or mutation of the X chromosome is spontaneous; therefore the re is no real pattern of inheritance. Also, it is very unlikely for a woman with Turner syndrome to pass it down to her daughter. Women with Turner syndrome have one functioning X chromosome. If the woman does become pregnant, she will only be able to pass down the functioning X to her child, meaning the daughter will not have Turner syndrome unless she goes through the same random mutation. According to the Turner Syndrome Society (2016), woman with Turner syndrome can experience signs and symptoms such as short stature, aShow MoreRelatedGenetic Disease : Turner Syndrome1104 Words   |  5 PagesIn 1938, Dr. Henry Turner first described Turner Syndrome. Turner Syndrome a genetic disease that only affects girls, in fact, it is one of the most common sexual development disorders (Radtke et al. 2014). It is caused by an abnormal sex chromosome, either an abnormal X chromosome or a missing X chromosome. The sex chromosome contributed by the father to the child determines the sex of th e child because the mother always contributes an X chromosome whereas the father can contribute either an X chromosomeRead MoreTurner Syndrome : A Chromosomal Disorder1165 Words   |  5 PagesTurner 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 describedRead MoreTurner Syndrome, A Rare Medical Disorder1351 Words   |  6 PagesDysgenesis Gonadal Dysgenesis, also known as turner syndrome, is a rare medical disorder that affects 1 in every 2,500 girls (kidshealth). It is a chromosomal that occurs when one of the two X chromosomes found in females are missing or is incomplete. This condition only affects females. Although researches don’t know exactly what cause turner syndrome, they do know that it’s a problem with a female chromosome. Females who are born with Tuner Syndrome are short in height and effects their sexualRead More Turner syndrome Essay1096 Words   |  5 Pagesabnormalities. 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. He published a comprehensive medical description of the syndrome. It was not until 1959, that it became clear the syndrome was due to lack of sex chromosome material. Turners Syndrome is a rare chromosomalRead MoreGenetics Synthesis: Marfan Syndrome Essay1514 Words   |  7 PagesMarfan Syndrome Marfan Syndrome is an autosomal dominant disorder mainly caused by defects in the gene FBN1 that codes for the protein fibrillin. Approximately 1 in 5,000 people are affected. Cardinal features involve the ocular, musculoskeletal, and cardiovascular systems. There is a high degree of variability of this disorder, sometimes presenting itself at birth or later in childhood or adulthood. On one end of the spectrum is severe neonatal presentation with rapidly progressive diseaseRead MoreAlzheimer s Disease : Genetic Analysis1129 Words   |  5 Pagesneurofibrillary tangles and amyloid plaques accumulating in the brain (Sennvik et.al., 2000). The study of the human genome has elucidated gene variants; single nucleotide polymorphisms (SNPs) and mutations which affect the age of onset and the likelihood of developing AD. Understanding the causes of familial AD, the genetic risk factors for AD and the links between AD and other disorders; such as Down’s syndrome, will aid researc hers in the diagnosis and treatment of AD. Familial Alzheimer ’s disease FamilialRead MoreThe Effects Of A Concussion On High School Sports1347 Words   |  6 PagesAlarmingly, if a concussed student athlete returns to their sport without fully recovering, they are at risk for life threatening second-impact syndrome. Head injuries are finally being addressed on the news, and getting the attention they deserve. Now is not the time for naivety, the health of student athletes needs to be priority. What exactly is second-impact syndrome and how is it being prevented in high school sports? Every coach, player, and parent needs to be aware of the risk involved in making hastyRead MoreAn Autoimmune Disease : A Common Cause Of Death For Young Women3326 Words   |  14 Pages That is, women who are born with only one X chromosome (a.k.a. Turner syndrome; 45,X) have a high prevalence of autoimmune diseases; especially early onset autoimmune thyroiditis.10,12 Approximately ~40% of these women have antibodies targeting the thyroid and their prevalence of autoimmun e thyroiditis is ~100 fold higher than men (46,XY) and ~17 fold higher than normal women (46,XX) (Figure 2a).1,3,10,12 Because Turner syndrome (45,X) women do not have an inactivated second X chromosome, theirRead MoreLanguage Perception961 Words   |  4 PagesHowever, Onishi and Baillargeon [2005] study finding that child’s carry out gaze for longer in this case which the infants sees the toy in an area that was contradictory with her own belief. But will this suggest that child’s do understand people false belief as stated by Onishi and Baillargeon? Moreover, the explanation of this research was an intense discussion. Mainly, it argued if a child’s, without a doubt, have, an understanding of mental states like belief, in an identical way that infantRead MoreCase Study: Forensic Toxicology870 Words   |  3 PagesIn this case study Forensic Toxicology was used to solve the murder of Robert Curley and obtained the conviction of his wife Joann Curley. In 1991Robert Curley began to feel ill, in August he was rushed to the Wilkes-Barre general hospital. He was having an attack and was experiencing numbness in his hands, intense sweating, a flushed face, repeated vomiting and a burning sensation in his feet. His doctors went through several diagnoses for his puzzling symptoms before he was diagnosed with Guillian-Barre

No comments:

Post a Comment

Note: Only a member of this blog may post a comment.