Turner Syndrome Research Paper

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

Fragile X Syndrome effects people of all ages from birth till death, in many different ways. Some people with the syndrome will show signs and symptoms but others may show none. Females often will not show signs or symptoms and the only way you can tell is through testing, but on

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.

Will your child be the 1 out of 2500 births with Trisomy 18? Trisomy 18 is caused by an error in cell division while in embryonic development. It is caused by an extra chromosome on chromosome 18. (So, there is three chromosome 18 instead of the regular two.) Usual symptoms are low weight at birth, small abnormally shaped head, and organ defects that are often fatal.

Every year, approximately 3000 babies in America are born with Klinefelter Syndrome. Klinefelter syndrome, a genetic disorder known as XXY, is the most common sex chromosome disorder. Klinefelter occurs when the presence of at least one extra X chromosome is in each of the cells. Because chromosomes, contains all the genes and DNA, are building blocks of humans bodies, they are extremely crucial in determining the structure and traits of each individuals. Besides the physical changes that Klinefelter patients experience, the mentally impact they have to deal with daily is equally challenging.Klinefelter Syndrome causes many complex changes in the humans’ genes, severe effects as well as complications not only on the patients' physical bodies, but also on their mental health through dt age groups ; however, due to many advances in the medical fields, doctors are now able to use different effective methods to treat those who have this disease.

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

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.

Meiosis is only performed by a male or female’s sex organs because the cells found in those organs, gametes, contain the X or Y chromosomes (Maayan 2011). When the gametes are producing more cells, they pass on the X or Y chromosomes to the new haploid daughter cells. Randomly, during miosis I or meiosis II, the homologue pairs or the chromatids do not separate in a process called nondisjunction (Mader 2015). When this occurs occurs and some new cells will be left with no chromosomes and others with double the amount of chromosomes. If a woman has an egg with no x chromosome is fertilized or if a sperm with no X chromosome fertilizes an egg, what will result is a zygote with only one X chromosome instead of the normal two (“Chromosomal Abnormalities” 2017). If this zygote is formed, it is called monosomy X or what we know as Turner Syndrome (“Chromosomal Abnormalities”

However, "some women with Turner Syndrome have a chromosomal change in only some of their cells, which is known as mosaicism. Women with Turner syndrome caused by X chromosome mosaicism are said to have mosaic Turner syndrome" (Genetics Home Reference.)Yet, scientist who've researched this disorder have not found the exact loci of the gene that is involved with Turner syndrome. Uniquely, researches have "identified one gene called SHOX that is important for bone development and growth. The loss of one copy of this gene likely causes short stature and skeletal abnormalities in women with Turner syndrome." (Genetics Home Reference) In spite of such discovery, Turner syndrome still doesn't have a specific chromosome which account for the disorder being expressed in

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.

Babies born with Rett disease don’t show symptoms for the first six months of their lives. At around twelve to eighteen months is when they start showing symptoms. The most common symptoms are slowed growth, unusual hand and eye movements, decrease of movement and communication, breathing and heartbeat irregularities, seizures, and scoliosis (which is the curving of the spine). Rett disease is contracted by a mutation of the X chromosome so to correctly diagnose the disease, doctors perform blood tests. Rett syndrome is common in every group. “Current estimates suggest that Rett syndrome occurs in one out of every 10,000 to 15,000 girls born and affects 1 in 10,000 to 22,000 females in the U.S” (how many people…,

People typically have two sex chromosomes in each cell: females having two X chromosomes, while males have one X chromosome and one Y chromosome. Turner syndrome results when one normal X chromosome is present in a female's cells and the other sex chromosome is missing or structurally altered. The missing genetic material affects development before and after birth. About half of individuals with Turner syndrome have monosomy X, which means each cell in the individual's body has only one copy of the X chromosome instead of the usual two sex chromosomes. Turner syndrome can also occur if one of the sex chromosomes is partially missing or rearranged rather than completely absent. Some women with Turner syndrome have a chromosomal change in only some of their cells, which is known as mosaicism. This type of Turner syndrome may result milder symptoms than other types of the disorder. In order to diagnose mosaic Turner syndrome, healthcare professionals may examine blood cells and/or skin

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