Turner's Syndrome Analysis

This syndrome is tested at birth with fluorescent in situ hybridization or FISH. With blood samples, they test the blood for the deletion of chromosome 7. FISH checks if many as of 22-26 genes are deleted. Because there is no cure for this syndrome, you will most likely have physical therapy and early education to help early development symptoms like speech delays and heart problems. This syndrome is not caused by environmental factors, it is completely genetic and NOT the parents fault.

In the film Regarding Henry, Henry Turner depicts a more complex Id and Superego, that is capable of having positive and negative qualities on each side. Through complex character development throughout the film, Turner creates a two sided Id and Superego. After seemingly changing personality traits, due to a freak accident, Turner’s views on life are changed after a complete memory loss.

The chromosomal abnormalities include turner's disease, laron dwarfism, noonan syndrome, sinotina wiley syndrome, russell xifushi, mutation / deletion of the short stature homeobox-containing gene, and skeletal dysplasia.

Turner syndrome results in a monosomie of chromosome X and is the only viable monosomie known. One in every 5,000 newborns can inherit this disease. The mental abilities are not affected, although they are usually sterile owing to underdeveloped sex

Turner Syndrome is a disorder that affects one in every two thousand girls. Usually girls are born with only one X chromosomes. Some are born with an extra chromosome, or sometimes even half of one is missing which causes Turner Syndrome.

Noonan syndrome is a genetic birth defect that results in many physical deformities and possible developmental handicaps. Noonan Syndrome affects male children while Turner Syndrome affects females. This paper will focus solely on Noonan Syndrome, which affects 1 in approximately 2,000 people. Complications include but are not limited to: short stature, widely spaced eyes, some form of heart disease, and stunted puberty or infertility. Noonan syndrome is a biochemical disorder that occurs before a person is born and is formed through the genetic makeup of the parents that result in that of their offspring.

Family history is a big part in diagnosing a person with (DMD) since it’s a genetic disease. Patients with a family history of (DMD) can get a screening including fetuses in the womb. Genetic testing for these conditions in future pregnancies of an affected individual or parents of an affected individual can be done before birth through amniocentesis or chorionic villus sampling (Quercia). Amniocentesis is when doctors take fluid from the amniotic sack and test it for and chromosomal abnormalities. (The main trait that causes (MD) is the protein dystrophin. Women pass on the genetic disease and are the carriers. Women that are carriers of (DMD) can have mild symptoms but won't be affected as a much as a male would since females have an unaltered X chromosome. The most common mechanisms of mutation are deletions and duplications largely clustered in the “hot spot,” a DNA sequence associated with an abnormally high frequency of mutation or recombination (MD). The dystrophin gene defect is affecting males in two out of three cases due to the X-linked inheritance (MD). One third of the cases of the gene defect is due to the defect happening as a result of a mutation in the germ cells of parents (MD). Scientists also believe that since the mother is the carrier of (DMD) that the egg cell has a dystrophin gene

Turner Syndrome was discovered by Henry H. Turner, MD, a pioneer endocrinologist. He first discovered the syndrome in 1938 when he wrote is manuscript describing the syndrome that has his name. Henry Turner described his initial observations of the Turner syndrome in an interview with R. Palmer Howard, MD and he said he noticed a pattern of non-maturing girls who were shorter than regular girls and had short necks, and a low hair line. Turner continued to follow the seven patients, and he later discovers that they responded to an estrogen therapy, in which helped the teenagers develop breasts, and increase the size of their uterus.

Ever since I was a little girl, I have always wondered why God chose to give me the diseases I have. Did I do something wrong? Did my parents do something wrong? I felt as though God had turned on me and deserted me, and no matter how many times my mom told me that God has a plan for everyone, it never really made sense. I still constantly wondered if maybe God was mad at me or was maybe punishing me for something out of my control. It was not until I met Anyaa that I realized that God did not give me a challenge by giving me these permanent diseases, but he really granted me a gift.

The cause of the disorder is being born with three copies of chromosome 18 but you normally would have two copies. One symptom of my disorder is Atrial Septal Defects, these defects are the two top chambers of your heart having a hole in them. Another symptom is Cachexia this is losing muscle mass gradually. Camptodactyly and deviation of the fingers which makes them deformed. Cognitive impairment is a decline of aging, memory, judgment and more. They also have facial deformities. One facial deformity hypertelorism is having skin folds in the corner of your eyes.

Klinefelter's Syndrome is a genetic disorder that only affects men. Those affected are born with an extra X chromosome (Belts & Frey, 2006). In 1942, Dr. Harry Klinefelter released a study concerning nine men who had little to no facial hair, enlarged breasts, small testicles, and were unable to produce sperm. The name of this syndrome originated from Dr. Klinefelter's name (Kenny & Henderson, 2015). This disease is often abbreviated as KS or referred to as 47 XXY. It is referred to as 47 XXY because of the extra chromosome in patients (Schoenstadt, 2016).

known risk factor is advanced maternal age-at age 35, a woman has 1 chance in

Turner Syndrome is caused by a missing or incomplete X chromosome. People who have Turner Syndrome develop as females. Some of the genes on the X chromosome are involved in the growth of your height and sexual development, which is why girls with this disorder are shorter than normal and have incompletely developed sexual characteristics. Within this disorder there can be many symptoms, for example: swelling hands and feet, heart defeat, pregnancy chorionic villus sampling or amniocentesis. There are also major causes contributing to this disorder including a stocky build, arms that turn out slightly at the elbow, receding low jaw, a short webbed neck and low hair line on the back of the neck. Also includes backtracked puberty, ovaries undeveloped properly and effects sexual development.

scoliosis, cataracts , scars, overweight, Chrohn diseasChromosome Patterns The normal female has 46 chromosomes, of

The results indicate that their baby is a female with Turner Syndrome. This condition is caused by a missing X chromosome and results in short stature, ovarian failure, and medical problems involving the heart, thyroid glands, and kidneys. Some of these conditions can be treated and managed with great success. The question that arises after diagnoses