Turner Syndrome Research Paper

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.

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.

Some of the symptoms of females who are born with Turner syndrome are shorter than average,

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.

Klinefelter Syndrome is the presence of an extra X chromosome in the male. Klinefelter disease is the most common chromosomal malfunction. Klinefelter Syndrome Is a fault in cell division when the reproductive cell of a parent is being designed. (Kids Health 2015) Klinefelter Syndrome occurs in 1 out of 1000 males. (Dennis O’Neal, 2013)

The X and Y chromosomes are what determine the gender of a person. Depending on whether the sperm that impregnates a female carries an X or Y will determine the gender of the offspring. A Y chromosome will cause the offspring to be male while if the offspring has an X it will be female. Some offspring will be born with more X’s or Y’s often know as klinefelter syndrome, XXXY syndrome, 49,XXXXY syndrome, XXX syndrome, and tetrasomy X. Males with klinefelter syndrome, XXXY syndrome, and 49, XXXXY syndrome are still male though many suffer from shorter stature, enlarged breasts, hypogonadism, cryptorchidism, and deficient growth hormones. Women who have XXX syndrome and tetrasomy X are still female, but women with XXX syndrome will

Turner’s syndrome is a condition that effects 1 in 2,500 newborn girls (Bondy, C.A. 2009). There are many names for this condition including 45 X, TS, Ullrich-Turner syndrome, and Turner syndrome. While females usually have two X chromosomes, these girls are born with only one X chromosome or the second X is altered. While some of the babies make it through full term, some who have this condition are prone to unexpectedly aborting. Diagnosis of the missing or altered chromosome could happen during development in the womb or any time after birth. Heart defects can be related to TS along with physical abnormalities that catch the eye of doctors. Not all girls with this condition are prone to having learning disabilities, but it varies between individuals.

Turner syndrome is caused by the partial or complete loss of one X chromosome in females. Turner syndrome can only happen

Discovered in 1938 by Dr. Henry Turner, Turner’s Syndrome is where a female is born with either a x-chromosome missing, or the chromosome being altered in some way. Signs a girl has this disorder can include: puffy feet and hands at birth, short stature, low growth hormone levels, and a delay in puberty. Turner’s is rare, as it occurs in about one in every 2000 births. I was that one birth. Pediatric Endocrinologist Nancy Wright is the one who diagnosed me with it on October 11, 2014. The day was a fall day, with the crunchy leaves on the sidewalk and the doorway. That day was also a little cold. Not too cold, but not burning hot either. The ride took about an hour from my home state of Georgia, to Dr. Wright’s office in Tallahassee, Florida.

Turner Syndrome is a rare disorder that only girls can get that is not preventable and parents can’t cause it. In the United States one out of every 2,000 girls have this disorder. A girl could get Turner Syndrome at any age and doctors can find out if a girl has it before they are born. It was discovered in 1938 by Dr. Henry Turner when he was trying to help a group of girls with dwarfism and nothing happened to them after they used the treatment that he gave them. The most common sign of Turner Syndrome is not having the second female sex chromosome making it harder for girls with it to have kids but they could if they take fertility treatment. They can also have a better chance of having heart and kidney abnormalities and ear infections.

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.

Named after Henry Turner, who in 1938 was one the first doctors to report his discovery in the medical literature on this disorder, Turner Syndrome (TS) also known as monosomy X. Turner Syndrome is caused by the complete or partial loss of one of the X chromosomes resulting in 45X chromosomes. This disease affects only girls and women. It is one of the most common chromosomal disorder and likely the most common genetic disorder of females (National Organization for Rare Disorders 2012). Individuals are usually diagnosed before birth, shortly after birth or during early childhood. It is important to diagnosis Turner Syndrome as early as possible.

Down syndrome is a genetic disorder in which a person is born with an extra copy of chromosome 21. There are three genetic variations that cause Down syndrome: Trisomy 21, Mosaic Trisomy 21 or Translocation Trisomy 21. There are many ways in which theses disorders affect the body.  Trisomy 21 occurs when an egg or sperm comes in with an extra copy of chromosome 21, then, once an embryo is formed and starts to develop, the chromosome is replicated in every single cell of the embryo. Trisomy 21 is the most common type of Down syndrome. About 92% of Down syndrome patients have this type. People with Trisomy usually have physical problems.