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.

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.

XYY Syndrome is a genetic disease where a male has an extra Y chromosome. This could then lead to an increased risk of learning disabilities.(Genetics Home Reference). XYY Syndrome

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

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

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.

What is Turner Syndrome? Turner Syndrome was named after Dr. Henry Turner who discovered it in 1938, but also referred to as Ullrich-Turner, Bonnevie-Ullrich-Turner, and Gonadal Dysgenesis. This syndrome occurs in 1 out of 200,000 females. Making it a rare syndrome that only 70,000 people in the whole world has. Turner syndrome is a lifelong condition. Most people live long and healthy lives, yet some are susceptible to numerous chronic conditions. Genes are passed on to a child from each parent, in structures called chromosomes. You have 23 pairs of chromosomes in each cell of your body. Each chromosome contains thousands of genes. Our genes determine how our body functions, what we look like and sometimes what diseases we will get. A female

The XXY syndrome, most commonly known as Klinefelter syndrome (KS), only affects males of all ages. This syndrome occurs when there is a random genetic error after conception and is not curable, however treatment can help.All females have XX chromosome and all males have XY chromosomes. Unlike the normal XY type that all males have, males affected have an additional X chromosome which results into many symptoms such as impaired spermatogenesis, low testosterone, and male hypogonadism. Since Klinefelter syndrome is related to the sex chromosomes of males, it is a sex link trait.

Turner syndrome is a form of chromosomal condition that describes women and girls who have abnormal features, which are caused by either a partial or complete absence of the second sex, “X,” chromosome. Dr. Henry Turner was one of the first persons to describe these features in the 1938, and the syndrome is named after him. He observed and studied seven girls with similar “odd” features. “Turner Syndrome occurs in about one out of every two thousand females who are born, as well as in up to as many as ten-percent of all miscarriages.” This syndrome is considered to be a rare syndrome.

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 described an 8-year-old girl with short stature, swelling of the hands and feet, neck webbing, and several other features now associated with Turner syndrome. In the 1940s, endocrine and pathology studies confirmed that the sexual immaturity seen in these patients was due to ovarian failure. In 1954, Paul Polani and his colleagues provided the first link between Turner syndrome and sex chromosome abnormality when they reported three patients with this condition who were sex chromatin negative. With the advances in chromosomal analysis, it was revealed that Turner syndrome was associated with the presence of a single X chromosome. Other names used to refer to this disorder include TS, monosomy X, and Ullrich-Turner syndrome.

Turner Syndrome is only found in females. This syndrome is caused by the absence of an X chromosome or the nondisjunction of the X chromosome. This is a chromosomal disorder meaning “an abnormal condition due to something unusual in an individual's chromosomes.” Turner Syndrome is due to a chromosome mutation rather than a gene mutation. The missing X chromosome affects the development of the female. Usually Turner Syndrome is not inherited from the parent and “occurs as a random event during the formation of reproductive cells in the affected person's parent.” Sometimes the egg loses a sex chromosome as a result to nondisjunction and in this case resulting in Turner Syndrome. As you can tell you cannot necessarily predict if your child is going to have Turner Syndrome because it is random. Fortunately, it is rare that Turner Syndrome is passed from one generation to the next generation.

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.

The list of symptoms includes, “Mildly unusual physical features, such as tall stature, a small head and a vertical fold of skin that comes down across the inner angle of the eye, developmental issues such as delayed language skills and delayed motor skills, which can result in poor coordination, awkwardness, and clumsiness, behavioral and emotional difficulties, seizures, kidney problems,” (Nordqvist,What is Triple-X Syndrome?) Most girls affected with the syndrome have normal sexual development are able to conceive children. Though most girls have normal sexual development, reproductive problems can arise, some of which are menstrual irregularities, early menstruation, and periodically,

Trisomy 21, also known as nondisjunction, means that there is an extra copy of chromosome 21 in the cell and is the most common. Translocation occurs when there are two 21 chromosomes plus an extra piece of chromosome 21 that had attached itself to another chromosome during the division process. Those who have mosaic down syndrome contain an extra chromosome 21 in only some of their cells while others are unaffected. People with mosaic down syndrome tend to have milder physical features and intellectual abilities than those who have trisomy 21 and translocation down syndrome. According to Mark Selikowitz, maternal age is a significant factor in causing trisomy 21. When females are born, all the eggs that a woman will produce are already present. The eggs wait years, some longer than others to be released and it is during the wait period (some 20-40 years) that it is believed errors can occur. On the contrary, man’s sperm does not remain standing therefore less probability for error. Additionally, people with a family history of down syndrome and people who carry the genetic translocation are factors to consider whether the child would be at