What is Turner Syndrome? Turner Syndrome is considered a rare disease; one in two-thousand female births are affected with this disease. Turner Syndrome is diagnosed with a genetic test, when a girl has Turner Syndrome it is because she is missing or is partially missing an x chromosome. Tuner Syndrome has many symptoms and traits which vary in each girl. Some of the symptoms are delayed puberty, heart defects, scoliosis, and infertility due to non-functional ovaries. The main trait is short stature usually less than five feet tall others may include webbed like neck, many moles, lower ears, and Receding lower jaw (“Welcome”). Turner Syndrome cannot be diagnosed without most of the obvious symptoms or genes. A genetic test needs to be done to determine the diagnoses and assure there is a missing or partially missing chromosome. There is no cure for Turner Syndrome but there is a treatment to add some height to the girls. Human Growth Hormone can be given to a girl diagnosed with Turner Syndrome as soon as possible. It is injected once a day, six days a week, and is given until the age a girl stops growing, which is around sixteen years old. Human Growth Hormones need to be started as soon as possible so the girl has a chance to grow taller than five feet tall (“Turner”). Genetic testing should be done at an early age. Genetic Testing helps determine the chances or helps diagnose an illness or disease. Genetic testing can be a test of your blood or tissue. Getting a genetic test done at an early age can be helpful in many ways. With Turner Syndrome, a genetic test at an early age is helpful for treatment. A girl only has up to the age of sixteen to take the Human Growth Hormone to grow; if she is diagnosed too late she will not... ... middle of paper ... ... treatment for a while. An early genetic test should be done in the case that the girl needs to stop medication for a while because she got sick or it did not do her good. If a girl starts medication to late due to a late diagnoses that can only be given after a genetic test there is more time being taken out of her treatment which means she will grow less. Getting an early diagnosis can help prepare the family for the future and what can come. Sometimes diseases or illnesses are discovered when they are serious and there is not much time to prepare or understand and be aware of the situation but with an early diagnosis there is time. When you get an early genetic test and are diagnosed with a disease you have time to learn about your disease and be aware of what you have and ways you can help treatment work better. Genetic testing should be done at an early age.
Advantages of genetic testing may be helpful in determining whether or not you have a disease or are proba...
Although for some females, symptoms of Turner’s syndrome aren’t as well evident until later on in the indi...
Normally those who are affected with Jacob Syndrome look normal in physical appearance besides the fact that they are taller th...
In Gattaca, the plot focuses on the ethics, the risks, and the emotional impact of genetic testing in the nearby future. The film was released in the 90s; yet in the present, the film does not give the impression of science fiction. Today, genetic testing is prevalent in many aspects of the scientific community. This paper will describe genetic testing, its purpose, diagnostic techniques that use genetic testing, relating Huntington’s disease to genetic testing, and the pros and cons of genetic testing.
Rett syndrome is a particular neurological disorder that is first found in the first few months of life and typically almost always diagnosed in girls, but can be seen in boys, rarely, but it is possible (International Rett Syndrome Foundation, 2014). Rett syndrome symptoms soon appear after an early period of regular or near regular development until six to eighteen months of life, when there is a slowing down or stopping of skills. A period of backsliding then follows when the young female child loses communication skills and purposeful use of her hands. Soon, the known physical handicaps became visible such as washing hands, difficulty walking, and head growth abnormalities, the head will grow slower than it supposed to. More symptoms that may be brought on by the syndrome can include seizures and rapid and/or slow breathing repetitions while the child is not sleep. In the younger years of childlife, there may be a time of separation or withdrawal when she is irritable and cries inconsolably. With time, motor skill problems may increase, but in generally, the irritability the child endures lessens and eye contact and communication improve (International Rett Syndrome Foundation, 2014). According to rettsyndrome.org, Rett syndrome is caused by mutations on the X chromosome on a gene called MECP2. There are more than 200 different mutations found on the MECP2 gene. Most of these mutations are found in eight different spots. It strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 to 23,000 female births (Rett Syndrome Foundation, 2014). It is not a degenerative disorder, saying that this syndrome does not cause the body or the mind of the infected child to become weaker. It also causes problems in brai...
First, let's consider the situations in which genetic testing would be beneficial to patients. Genetic testing for diseases that are preventable or treatable could allow individuals to alter their lifestyles so as to treat the disease or reduce their risk of developing the disease. For instance, the E2 version of the APOE gene, which is found on chromosome 19, has been linked to heart disease (Ridley, 1999). Individuals who have two copies of the E2 gene are particularly sensitive to high-fat and high-cholesterol diets. Therefore, a genetic test to determine whether a person has the high-risk version of the APOE gene could inform a person of future health risks, thereby allowing the person to change his diet to help prev...
Along with genetic mutations, there is also genetic diseases. Genetic diseases are an abnormality in the DNA. One of the most known and common genetic disease is “Chromosome 21” or formally known as Down syndrome. It is where a child is born with three sets of the Chromosome 21 instead of being born with only two. How it happens is when a part of a chromosome 21 becomes attached to another one during the stage of reproduction. You are able to tell if a person has Down syndrome or not. Most of the physical features are obvious. By looking at a person’s face you are able to tell, because
The desire to have a "normal" child is held by every parent and only now are we beginning to have the ability to select for that child. In preparation to receiving genetic testing, the parents are required to meet with a genetic counselor. A detailed description of the testing methods are reviewed with the couple as well as the risks which are involved with each. Upon an understanding of the procedures, the counselor discusses the many possible outcomes which could be the result of the diagnosis. Finally, before any tests are performed, anxieties from either of the parents are addressed as well as the psychological well-being of the parents.
Since the gene for HD is dominant, there is a 50% chance of a sufferer's
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.
Genetic testing is the process of sequencing six billion letters of a human genome to possibly discover genetic differences, such as how cells carry the same genome but at the same time look and function different. Genetic testing is also the process that can give foresight into pathological diseases such as different types of cancer.
Genetic testing, also known as screening, is a rapidly advancing new scientific field that can potentially revolutionize not only the world of medicine, but many aspects of our lives. Genetic screening is the sequencing of human DNA in order to discover genetic differences, anomalies, or mutations that may prove pathological. As genetic screening becomes more advanced and easily accessible, it presents society with difficult questions that must be asked about the boundaries of science and to what degree we are allowed to tamper with the human genome. To better understand the potential impact of genetic screening on our society, we must examine the potential benefits in comparison to the possible negative impact it may cause. With this knowledge in hand, we can examine what the future holds for this field of study and the best possible direction to take.
(2) Even people that don 't have any disease could be more prepare, and prevent it from developing in the future by being more aware thanks to the genetic test provided. Genetic screening is another valuable technology that could help a parent keep track of their baby 's health by examining their chromosomes. Genetic testing and screening could impact the life all patients in a positive way, therefore the opposing side should be grateful, and take advantage of this opportunities provided. For example, a person goes to genetically test themselves in a clinic, and they come to find out that they could potentially develop heart problems in the future. Now they can be more aware, and prepared. They could in many different ways like changing their diet or exercising more so they could better protect their heart, and decrease the chances of having the heart problems, like they where presented in the genetic test. What if the person didn 't know they had a chance to have problems? and start eating unhealthy foods that could likely speed up their changes of developing a heart disease. My point is that the same thing goes to those parent who want to get a update of their unborn child 's health. Many healthy mother don 't really expect that their pregnancy will bring some implications, but in
Most individuals are either related to or know someone who is effected by some type of disability. Many of these disabilities are caused by genetic disorders. Genetic disorders may alter physical appearance and cause mild to severe mental retardation. Fragile X syndrome, Down syndrome, Turners syndrome and many other syndromes result from a mutation of a chromosome, an extra chromosome, or too few chromosomes.
...omosomes or genetic/chromosomal disorders. The most common type of genetic or chromosomal disorder is Down Syndrome or trisomy 21 (Cherry, n.d.). The condition occurs when a child has three chromosomes at the site of the twenty-first chromosome rather than the normal two. Some of the most common signs of Down Syndrome include round face, thick tongue, slanted eyes, hearing problems, heart defects, and intellectual impairment.