Down Syndrome Essay

Turner syndrome (TS) is a disability that only affects females. The condition occurs when a female has one x chromosome instead of the usual two chromosomes. Most sufferers of Turner syndrome grow to be shorter than most children on their age group and most only have life expectancy of up to 50 years while some tragically pass away as young as 13 years old.. Although plenty of information on Turner syndrome in known, researchers and scientists are still trying to figure out exactly which genes in

General Information Affecting 1 in every 4-8 million people worldwide, Hutchinson-Gilford Progeria syndrome is a rare and fatal genetic condition characterized by the appearance of rapid aging in children. It affects both sexes and all races equally. It is caused by a mutation in the gene called LMNA, which produces the lamin A protein, a structural scaffold that holds the nucleus of a cell together. The abnormal form of the lamin A is called progerin, and it causes the nucleus to be unstable. Progeria

There are many possibilities that can happen during the nine months that make a child. During those 9 months in the womb, there can be changes in the process of creating the baby. Usually the chance of having a baby with a disorder is about one in several thousands or millions. These disorders are illnesses caused by changes in a person's DNA. Genetic disorders make people unique from others. Hypohidrotic ectodermal dysplasia is a rare disorder that not many people get. Before birth, there is

Klinefelter Syndrome. When described more than 40 years ago, Klinefelter Syndrome was thought to be an endocrine disorder. A second testicular postulated hormone that never has been isolated. Over the years the syndrome has been found to be a chromosomal Disorder. In which there is a extra X chromosome in 80% in the patients. The disorder occurs in every 500 to 1000 male births and the best way to diagnose it is by a buccal smear. (http://www.webmd.com/men/tc/klinefelter-syndrome-topic-overview#1)

Chat syndrome-also known as cat cry syndrome- a genetic condition that is caused by a genetic material on the fifth chromosome. Discovered in 1963 by french geneticist named Jerome Lejeune. Cri du chat was described as a syndrome that consists of congenital anomalies and mental retardation, microcephaly, and abnormal face. In younger patients the cry similar to mewing of a cat is the main diagnostic feature of the syndrome. The syndrome got its name high-pitched tone of their cry.The syndrome is commonly

The question of whether or not people with intellectual disabilities should bear children is nothing new. Court ordered sterilizations of the intellectually disabled were commonly practiced during the first half of the 20th century as eugenics movements swept the globe. It was assumed that people who had intellectual disabilities were not capable of being good parents and would conceive children who also had a disability. This population of people was not desirable and fell victim of eugenics, which

The R-Word When speaking, do you ever think about the true meaning of the words spoken? Do you change the way you speak around certain people? My best friend, Mary Kate, was born with a mental disability. She was on breathing tubes until she 9 months old and had 7 surgeries before her 3rd birthday. For her entire life, she was in and out of hospitals due to problems with her respiratory system. When she could attend a normal school for middle and high school, she was beyond excited. As I got involved

I think this case calls into question much larger questions that can be discussed adequately in this setting, such as what should be the aim of interventions for a severely cognitively disabled person: a life that is as close to ‘normal’ as possible, a life with the most pleasure as possible, or something else. As such, it is difficult to evaluate how to determine what constitutes a patient’s quality of life in this situation outside of the obvious requirements of having basic physical needs met

Fragile X Syndrome is a genetic condition that causes intellectual disabilities, various physical characteristics and challenges to learning as well as behavioural issues. It effects both genders but majority of the time it will affect males more. There is still no cure, although finding the genetic condition early you can get help from professionals to make sure that people with Fragile X Syndrome can live up to their full potential. These are some symptoms in different categories. Not everyone

Werner syndrome is an autosomal recessive genetic condition associated with the WRN gene (7). The WRN gene found on chromosome 8 encodes a protein called Werner (4). The Werner protein works as a helicase assisting in the unwinding of DNA. The helicase belongs to the RecQ helicase family and assists in DNA repair, maintenance and regulation of telomeres (4). The Werner protein also functions as an exonuclease that also assists in DNA repair, replication and transcription (4). The Werner protein has