Mosaic Turner Syndrome Research Paper

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.

“That made me feel great! I can’t even find a word for it! She’s basically like my role model. I want to meet her and talk to her and everything. I want to ask her how did she do it and what gives her motivation every day. It reminds me of how other African American girls in dance want to be just like her and I’m one of those people. It’s a struggle and there are times when you want to quit in ballet. That’s really big and really huge. I’m proud of her” she beamed.

I was born into a world of diversity, although not in the way that most people might think. My world is the world of medical disabilities. This may seem like a sad and scary world, but it’s a world full of amazing, unique people who have faced adversity. I was born with Caudal Regression syndrome, a congenital disorder in which there is an abnormal development in my spine. This disorder brings along many issues, including a solitary kidney, issues with the function of my colon and bladder, and deformation in the feet. Facing these issues meant I would spend a lot of time in the hospital. There I met magnificent people who changed my perspective on life, and pushed me towards positivity.

She worked hard in class, getting better and better each day. She was turned down roles in different ballets simply because of her skin disease and the fact that she looked different then all of the other ballerinas. While she was practicing her skills, she wanted to keep getting better because she wanted to break the stereotypes of having to look a certain way. She worked hard, and eventually did that. Today, besides dancing, she works with disadvantaged people, where she shares her story of hardwork and perseverance. In 2013, she worked with her mother and wrote a memoir, which was named Taking Flight. In 2016, she was named an Ambassador for War Child

Disease was brought into the world by Adam’s disobedience to Jehovah and therefore cannot be reversed.

Stevens – Johnson syndrome (SJS) is a severe immune response-mediated hypersensitivity reaction to particular drugs or infections that causes rashes, sloughing of the skin, and the disruption of mucous membranes. This condition may affect abdomen, back, breasts, feet, gastrointestinal system, genitals, hands, head, immune system, knees, legs, lungs, neck, nose, reproductive system, respiratory system, urinary system and eyes.

Stevens-Johnson syndrome (erythema multiforme) is an acute inflammatory polymorphic disease affecting skin and mucous membranes. All ages may be affected, and the incidence is equal in both sexes. This is a severe disease with a 5%–15% mortality rate. Ocular involvement, which occurs in as many as half of patients, varies from a mild mucopurulent conjunctivitis to severe perforating corneal ulcers. Blindness occasionally occurs in patients with severe late-phase corneal complications, such as ulceration, vascularization, and perforation.

About 10% of all miscarriages have this disease to blame. Turner syndrome happens when a female’s X chromosome has both X’s in one cell, but not others (called Mosaic Turner Syndrome), or entirely missing (called Monosomy). It can also happen when instead of two X chromosomes, there’s one X and a small part of a Y chromosome. The girl will still develop as a female, however. All of these forms of Turner Syndrome can result in physical problems like heart or kidney defects, a shorter than normal stature, a failure to start puberty, and infertility, and mental problems like learning disabilities and social adjustment problems, to name just a few symptoms.

Turner Syndrome is a sex chromosome disease caused by complete or partial monosomy which effects on average 1 in 2500 females (Porth, 2005). Doctor Henry Turner, an endocrinologist, discovered Turner Syndrome in 1938 (Hayden, 2013). This disease is believed to be responsible for up to 10% of spontaneous miscarriages, and many Turner Syndrome pregnancies are electively aborted (Hayden, 2013). Turner Syndrome only affects females; however, this disease can affect all ethnicities. Patients who have Turner Syndrome typically exhibit various signs, including short stature, lymphedema, low hair-line, and webbed neck. Women with Turner Syndrome typically have a narrow maxilla and a high-arched palate, and they may also have a bite abnormality.

There are thousands of rare diseases known to mam kind that only affects one of every couple thousand people. Each of which have their own unique characteristics that define each disease from one another. The one disease that is closest to my last name is the Smith-Magenis Syndrome also known as (SMS). However, 1 in 25,000 are considered to have this condition but are currently not diagnosed with the disease. Although, many officials believe the number is closer to 1 in 15,000. Currently there have been no signs of this disease being inherited through genetics, this disease is caused by a deletion of a region of chromosomes. The Smith-Magenis Syndrome is a development disorder that has multiple effects on an infected person through physical appearances, speech and sleep disorders, and behavioral problems.

Turner syndrome is not a walk in the park. The medical condition comes with major complications that researchers are working on finding other ways to help these girls live with the medical condition better. Turner syndrome affects about 1 in 3000 females. Monosomy, can happen in the zygote stage and leave behind long term complications, also they have symptoms that are noticeable, and treatments that help the girl develop to live longer due to new developments and reproduce.

Silva Laukannen is a mixed abilities dance teacher who works at a company called Dance Ability. She grew up trained in dance, but was really seeking a career in community dance. She was able to study a community dance program in college and even worked in a mixed ability dance company while in South Africa. Besides working at Dance Ability, she teaches classes for children with special needs, incarcerated women, senior citizens, children with a history of trauma, and parent child dance classes. Tanya Winters is a dancer with cerebral palsy who met Silva through Dance Ability. Tanya has been involved in many dances and theatre projects, including a dance piece she wrote herself.

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.

There was a student in a higher class. She was really nice and she had a big passion for ballet. She was the top student in her class. She helped my class and we watched her dance. She was so skilled that she became one of my big inspirations. I wanted to dance just like her.