Turner Syndrome: A Genetic Analysis

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.

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.

Normally the baby is conceived with the usual 46 chromosomes. Then during cell division the chromosomes are divided into half the egg, and half the sperm, which end up with 23 chromosomes each. Although and error can occur during Monosomy is where the complete sex chromosome is missing, because of the fathers sperm or even the mothers egg. Mosaicism is when an error occurs in cell division in the early stages of fetal development and leads to cells in the body having two complete copies of the X chromosome, while others having only one copy of the X chromosome (Mayo Clinic, 2017). If there is a fully developed X chromosome and partial of a Y chromosome then the individual will develop as a female, with the risk of developing a type of cancer called gonadoblastoma. 45,X/46,XY affects a small percentage of girls with Turner's; small fragments of Y chromosome are in their cells, which can increase the risk of developing tumors, along with gonadoblastoma, in their internal sex organs. Deltion, ring chromosome, and isochromosome are different types of variations of Turner's Syndrome. Deletion is when the X chromosome is missing some of its genetic material. Ring chromosome is where there is two X chromosomes, but one is shaped like a circle with the ends joined. Along with isochromosome which is the X chromosome has two long arms instead of a long and short arm. (Turner's Syndrome Society,

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

When a certain gene is known to cause a disease, it is referred as a single gene disorder or a Mendelian disorder. These disorders involve mutations in the DNA sequences of single genes. As a result, the protein the gene codes for is either altered or missing (Landsverk, 2013). Few examples of single gene disorders includes cystic fibrosis, sickle cell disease, Fragile X syndrome, muscular dystrophy, or Huntington disease. As a rule, single gene disorders are not very common. For example, only one in 2,500 people are born with cystic fibrosis. There are a number of inheritance patterns of single gene disorders that are predictable when you know what they are. There are three main transmission patterns: autosomal-dominant, autosomal-recessive, and X-linked or sex-linked recessive (Mahdieh, 2013).

Graves’ disease is a precursor to hyperthyroidism. Named after the man who first discovered the condition, Robert Graves, this disease shares many immunologic features with autoimmune hypothyroidism (17). The most common symptoms that come with this disease are weight loss, fatigue, nervousness, and irregular heartbeats. This particular condition can be affected by a person’s age. Statistics show that the severity of different symptoms can increase as a person diagnosed with Graves’ disease grows older. This condition also makes people more susceptible to other autoimmune diseases and women who are diagnosed with Graves’ disease should refrain from becoming pregnant until their thyroid problems have been sufficiently treated.

Tuners's syndrome is a disease affecting chromosomes of females where one of the two X chromosomes that a females contains becomes defective casing problems for the development of a female since conception. Thus, in a normal females there are 46 chromosomes in total, with the 45 chromosomes being autosomal(body chromosomes), while the 46th chromosome is the sex determining chromosome of a female XX or a make XY. However, Turner's syndrome does not affect males but rather females, which occurs because faults have been made early in the the evolution of a species. In return there's a creation an irrational numbers of arranged chromosomes, monosomy in this case, where the individual will have 45 chromosomes as a total rather than 46. For

Good reproductive health is a product of diet, exercise, hormonal balance, positive psychological health, as well as specialized medical care for women with Turner Syndrome. For example, diabetes, obesity, and thyroid disease all may interfere with ovulation and increase risk of miscarriage. These elements are even more important for women with Turner Syndrome, a majority of whom experience reproductive health issues. A majority of girls with TS do not spontaneously go through puberty and will experience premature ovarian failure, at which time hormone replacement therapy will become necessary. One of the most distressing reproductive health issues associated with Turner Syndrome is the decreased ability to become pregnant. This is the case for nearly every woman with Turner Syndrome due to premature ovarian failure. Only a fraction of women with TS are able to become pregnant spontaneously, yet due to certain classifications some women may have ovarian function. “Infertility is one of the hardest issues that TS women have to face”, says JoLynn Backes. She is a thirty-three year old woman that was diagnosed with Turner Syndrome when she was six. She is currently living in Poughkeepsie, NY with her husband. They were blessed with a baby boy through

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.

In conclusion, genetic disorders mutate the DNA and in some cases, delete portions of it. Williams Syndrome is a genetic disorder that affects the genetic material on the seventh chromosome. The locus of 7q11.23 has over 25 genes deleted, which is why Williams Syndrome has so many implications and symptoms. Distinct facial features and facial structure characterize Williams Syndrome. It can also be marked by severe cardiovascular difficulties and other issues that make life quite difficult for the person suffering from this disorder. Williams Syndrome also affects the mental capacity and logical thinking of the brain. This implies that daily tasks and schoolwork can be greatly affected and require special care. Williams Syndrome is also considered

Turner syndrome is a common chromosomal abnormality, occurring in approximately 1 in 2000 live-born female infants. it results when an X chromosome is missing or partially missing. Turner syndrome can cause medico-developmental problems, including short stature, failure to start puberty, infertility, heart defects, thyroid problems, certain learning disabilities and social adjustment problems. About 10-30% of cases develop hypothyroidism. This is often associated with thyroid enlargement.

There are three types of genetic abnormalities associated with Turner syndrome monosomy, mosaicism, and Y chromosome material. Monosomy is the complete absence of an X chromosome. Monosomy is due to an error in the mother’s egg or the father’s sperm. Mosaicism is a cell division error that occurs during fetal developments early stages. Some of the cells will have two copies of the X chromosome while others will only have one. Y chromosome material is rare in comparison to the two other abnormalities. In Y chromosome material there is one copy of the X chromosome and other cells will contain a X chromosome and some Y

Turner Syndrome, a genetic disease that had its first manuscript in 1938 published by a pioneer endocrinologist named Henry H. Turner. It is a chromosomal condition that is a most common genetic problems that occurs in women it occurs 1 in 2,500 female births worldwide, it is more common among pregnancies that do not survive to term of miscarriage and stillbirths. A condition that only occurs in the development in females that have the risk of a missing or defective X-chromosome within their whole or a fraction of their cells, showing that this disorder is not inherited but occurs spontaneously, a condition that is called Turner syndrome. Turner syndrome is when an abnormal