Turner Syndrome : A Chromosomal Disorder

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.

This disorder was first recorded in 1942, and received its title from the person who discovered it- Dr. Harry Klinefelter. He and his co-workers began observing male patients who exhibited more feminine characteristics. Characteristics like enlarged breasts, taller stature and smaller male gonads were some

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.

Before discovering HeLa cells, many scientists believed that humans had 48 chromosomes. While doing an experiment, a geneticist accidentally used a solution to magnify the chromosomes located inside the HeLa cells, therefore bringing up the possibility that humans actually have 46 chromosomes. These results were later solidified by Joe Hin Tjio, a cytogeneticist who received his Ph.D. in biophysics and cytogenetics from the University of Colorado. This led to scientists discovering genetic disorders that are still prevalent today, such as Down syndrome and Turner syndrome. “Down syndrome occurs when an individual has a full or partial extra copy of chromosome” (ndss.org). There are about 6000 babies that are born yearly and about 400,000 people living with this syndrome. Without the magnification of chromosomes, the population affected by Down syndrome would have had a higher death rate. In fact, the life expectancy increased substantially from 25 years in 1983 to 60 by the year of 2012 thanks to HeLa cells. Turner syndrome is a chromosomal condition that affects development in females. Females with this syndrome have a great chance of reaching age fifty, but their life expectancy is still reduced by thirteen

In the year 1943, two scientist, Martin and Bell, took on a case of mental retardation in a family. Through their investigation of the family, they were able to find a mark, or difference in a spot of the X-chromosome. There was extended information on the arm of the X chromosome causing the difference in looks for the family. More research was done when people began to map the gene in the 60’s and 70’s, and there was specific characteristics identified with the syndrome. With the discovery of the characteristics scientist could compare the affected males in the family compared to the unaffected women and find physical and genetic differences.

Dr. Henry Turner in 1938 first defined turner syndrome, but not until 1960 the chromosomal oddity was found (Turner Syndrome Society of Canada, 2016). Dr. Henry Turner was an endocrinologist, they diagnose diseases related to glands. Monosomy X or Turner syndrome happens during the zygote stage where the egg meets the sperm (Turner Syndrome, 2016). As

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.

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.

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

A chromosomal disorder is caused by an abundance or reduction of genes on the chromosomes. This type of disorder may also be caused by structural changes within these chromosomes; this is known as an aneuploidy (Porth, 2015). The most common chromosomal disorder is Down syndrome of which there are three types: complete trisomy 21, translocation, and mosaicism (Porth, 2015). Since its first identification in 1866, researchers have become more knowledgeable about the etiology of Down syndrome. When one studies etiology, pathogenesis, and clinical manifestations of Down syndrome, he or she will begin to understand multiple chromosomal disorders.