Turner Syndrome Analysis

Trisomy 18 cannot be cured because you cannot fix chromosomes but only can fix the defects that occur because of the chromosomal disorder. This disorder is a problem with the number of chromosomes a person is born with. The 18th chromosome is half duplicated causing birth defects and problems in their development, also allowing only for a short lifespan. This disorder is not inherited, but instead happens randomly when the chromosomes of the mother and father combine and a third chromosome 18 is formed. There is no known cause for why this extra chromosome develops in the fetus.

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

Most of the girls that have Turner Syndrome are way shorter than average girls. The girls often have their normal height up to three years old. After they are three the growth rate starts to slow down. Ovaries that are non-functioning are other symptoms of Turner Syndrome. A girl’s ovaries begin to produce sex hormones at puberty. This doesn’t happen with most girls who have Turner Syndrome. Most don’t start their periods or develop breast

Dear Patient, I'm sorry to inform you but your daughter has Achondroplasia, a growth condition your child has been born with. 1 out of 15,000 births in the United States experience this condition like your daughter ( National Institutes of Health. (n.d.). The reason this happen is actually unknown, the only way we can see this birth defect happiness is when either your husband's sperm or your egg was effected before she was born. ( Mayo Clinic Staff. (2016, April 03). the Symptoms are twisted elbows and feet, a abnormally long or short trunk, and the height under 4 feet 10 inches. ( Mayo Clinic Staff. (2016, April 03). The way we spotted this condition was when you had your ultrasound and found the fetus had shorten bones, we had a Amniocentesis test and it confirmed Achondroplasia. (March of Dimes. (April, 2013). Sadly Achondroplasia is not curable but to take some steps to improve your daughters health are hormone therapies to help increase bone growth or you can have surgery to add gaps in her bones to grow. (Mayo Clinic Staff. (2016, April 03). The best thing in my opinion as a professional is to treat her as a normal person and to help her in time of

Trisomy 21, Turner syndrome, and Williams syndrome have also been found to be at higher

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

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.

The patient will first need to be treated with recombinant human growth hormone (Ross, Cao, Feuillan, Kowal, Chipman, & Cutler, 2011); the patient may not be average height, but treatment does significantly increase the final adult height of the patient. Treatment for Ovarian failure is much more difficult and offers unique challenges because the timing and necessary dosage may fluctuate depending on the patient (Ros, Balasch, Mullol, & Castelo-Branco, 2013). Lifelong medical care is extremely important, and patients do not need to cease treatment as they grow beyond adolescence so medical professionals can continue to prevent or treat health problems that could be fatal. Lack of quality medical treatment as an adult can reverse positive goals attained during pediatric care and could possibly result in the death of the patient (Davies,

(Kids Health 2015) It occurs sporadically. There isn’t a certain age, but tests are definitely used to diagnose KS with hormone testing and chromosome analysis, which usually involves blood tests. (Mayo Clinic Staff 1998-2015) There isn’t a cure to this condition, but there are treatments available. The lack of testosterone sends many males with KS to testosterone replacement therapy helps with maintaining suitable levels of red blood cells, muscle strength, bone density, and reproductive function. (Cleveland Clinic 2009) Chromosome analysis is the evaluation of determining how a person’s chromosomes are built to discover any malfunctions or abnormalities (American Association for Clinical Chemistry, 2001 – 2015). A KS patient could also receive breast reduction surgery. It would be wiser to have this operation after the testosterone replacement therapy because the therapy actually promotes breast growth. To help the language and learning symptoms, speech and language therapy can be provided. Physical and occupational therapy may be helpful in rebuilding muscle and coordination. (Klinefelter syndrome and other sex chromosomal aneuploidies, October 2006) Depending on the severity of the syndrome, you can live a normal life. Most men get jobs, form relationships and have a normal life span. (Your Hormones, 2014) Life expectancy is normal unless in extreme cases 2.1 years. (Alexandra M. Molnar, MD; Genji S. Terasaki, MD; John K. Amory, MD, 2010) Doctors and scientist are working hard to conduct new information on Klinefelter Syndrome. There is no cure, but they are working hard on finding one. Although this syndrome is not new, research is still ongoing and they need more people to volunteer and really help with new discoveries. Klinefelter Syndrome is on its way. (EMedTV,

“The condition usually first becomes apparent in adolescence with delayed puberty and primary amenorrhea due to the gonads have no hormonal or reproductive potential” (Wang, 2011). Since these individuals are unable to go through puberty since they lack the sex hormones estrogen and progesterone, they can be placed on hormone replacement therapy during adolescence to induce menstruation. These hormones will also aid in the development of female secondary sex characteristics such as breast enlargement and uterine growth. Woman with this disorder cannot produce ova but can still become pregnant. They can do so by a donated egg or embryo. Hormone replacement therapy also helps these people by reducing the chance of them developing reduced bone density like osteopenia and osteoporosis

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 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.

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