Turner syndrome (TS) is a disability that only affects females. The condition occurs when a female has one x chromosome instead of the usual two chromosomes. Most sufferers of Turner syndrome grow to be shorter than most children on their age group and most only have life expectancy of up to 50 years while some tragically pass away as young as 13 years old.. Although plenty of information on Turner syndrome in known, researchers and scientists are still trying to figure out exactly which genes in the x chromosome are responsible. Most cases of Turner syndrome are diagnosed by physical features. These features include a webbed neck, which makes it difficult to make neck movements, low set ears, hearing loss, very swollen hands and feet (Lymphedema) from built up fluid and the failure of ovaries which causes them to not develop normally. With modern day technology, Turner syndrome can more easily be diagnosed by a karyotype blood test before birth. …show more content…
The most well known type of the condition is called Monosomy. Monosomy occurs when there is only one x chromosome. In this case, something went completely wrong with a mother’s egg or a father’s sperm. The second most common type of Turner syndrome is called Mosaicism. Mosaicism occurs when there is an error in cell division before birth, thus creating two different copies of x chromosomes. In some cases, there is one complete copy of an x chromosome and one partial copy of an x chromosome. There is a fairly rare case of Turner syndrome where some cells have one x chromosome and a part of a y chromosome. Through research, it has been found that there are no racial or ethnic influences that causes TS. Women and children struck with this type of Turner syndrome develop biologically as a female, but this highers the risk of contracting a cancer called
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.
Gonadal Dysgenesis, also known as turner syndrome, is a rare medical disorder that affects 1 in every 2,500 girls (kidshealth). It is a chromosomal that occurs when one of the two X chromosomes found in females are missing or is incomplete. This condition only affects females. Although researches don’t know exactly what cause turner syndrome, they do know that it’s a problem with a female chromosome. Females who are born with Tuner Syndrome are short in height and effects their sexual development and the ability to have children. Other features of this condition that can vary among women who have turner syndrome include: extra skin on the neck, heart defects, puffiness or swelling on the hands and feet, and/or kidney failure.
As stated the only way the a man could ever get this diseases is if their parents sex cell mutated giving the male child more than one x chromosome. It can greatly affect both the person's physical as well as mental state of being. The amount of chromosome can just be up to two or more, 47XXY/48XXXY, and so on.
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.
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.
It is possible for males to have two X chromosomes, because part of the X chromosomes’ gender determining region is translocated. There are two different types of chromosomal changes one happens with a detectable sex determining region Y and one without the detectable sex determining region Y. A female can be born with one X and one Y because of a mutation on the Y chromosome. While an XY person can develop into a female. Mutated individuals with a X and a Y are females in almost every way, but females with a X and a Y almost always lack working ovaries, a uterus, or both. Lacking working ovaries or a uterus almost always means that women born with a X and Y cannot get pregnant, but women who do have ovaries and a uterus still need donated eggs to have
Williams Syndrome is a rare disease that is caused by deletion of certain genes in chromosome 7 during the formation of reproductive cells. It is known as an autosomal dominant condition because one copy of the altered chromosome 7 is all that is needed to cause Williams Syndrome. While it can be inherited from a parent who already has the disease, it can also randomly occur in anyone. It causes some medical problems along with physical abnormalities, mental capacities, and personality characteristics. This rare disease affects 1 in 7,500-10,000 people. An estimated 20,000-30,000 people in the United States currently have been diagnosed with Williams Syndrome. There is no specific gender that Williams Syndrome, it occurs equally in both of
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)
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.
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.
Mosaic Trisomy 21 happens when an egg or sperm come in with an extra copy of chromosome 21, then,
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.