Fragile X Syndrome Research Paper

Thesis: Down syndrome is one of the most common genetic conditions but not many know how it develops or the different kinds.

Age is likely what comes to a lot of your minds when you think of Alzheimer’s disease, but what else is there?

The baby can also have behavior problems, ADHD, Autism, Neurological disorders, hearing loss, and several other disabilities.

Regardless of the improvements that have been made there is still a risk of miscarriages as a result.This risk factors can be contributed to the invasiveness of the procedure as well as the time during the pregnancy at which it is performed. The later the genetic testing is performed, the more developed the unborn child is and the later the possible abortion would take place. The two most common forms of testing are ¨amniocentesis or chorionic villus sampling¨ (Rebouché and Rothenberg 989). Both of these tests ¨[require] extracting cells from the fetus in utero, either through the mother 's abdomen or vagina¨ (Rebouché and Rothenberg 989). Both of these tests are performed during the second trimester of a pregnancy, which begins at thirteen weeks, and the results of the tests return back information rather quickly at a time of one to two weeks. These tests are uncomfortable, quite costly, and ¨carry a one percent risk of miscarriage each¨ (Rebouché and Rothenberg 989). While the risk is small, the percentage of parents that chose to terminate the pregnancy after these invasive tests are much greater. Between the percentage of those who choose to terminate a pregnancy when the receive the news that their child has Down Syndrome and the risk of a miscarriage, there is an eighty-six percent chance that the baby will pass away (Press

Throughout the semester, I have gained a better understanding of adapted physical education and sport programs. These programs provide children and adults with an opportunity to participate in sports they may not have thought were possible. The modifications to sport and exercise allows individuals with a range of disabilities to engage in activity. The disabilities can range from a mild learning disability to a permanent condition caused from a serious accident. While observing numerous individuals with disabilities, I was able to obtain a better understanding of the challenges that came with physical activity.

Klinefelter syndrome, also known as ‘47,XXY’ and ‘XXY’ is found in males, this is due to the fact that the host male gets another X chromosome. The image on the right you can see the extra chromosome with the pair of sex chromosomes. Usually there are only two chromosomes that determine the sex, one from opposite sexes but when it comes to Klinefelters Syndrome there is an extra X chromosome. Because this due to the additional chromosome it can described as a chromosome disorder. The frequency of getting affect by Klinefelter syndrome is 1in 500 to 1,000 newborn males. Klinefelter syndrome isn’t inherited but occurs as random event during the formation of reproductive cells in a parent. SYMPTOMS AT BIRTH AND CHILDHOOD Birth: Small Penis Undescended Most people with the syndrome are not diagnosed until they are adults but sign of the syndrome show up as you grow to become an adult. If they are early dragonised they can receive help to overcome any problems that are caused by Klinefelter Syndrome KLINEFELTER SYNDROME SYMPTOMS DIAGRAMS GENETICS OF THE DISEASE While Klinefelter Syndrome is a genetic disorder it isn’t inherited by any of the male and female counter parts. This is caused by the additional X chromosome which is can described as an error in cell division called meiosis causes an reproductive cell to have abnormal number of chromosomes. The image on the right clearly shows the karyotype for Klinefelter syndrome and were the chromosome disorder is. Klinefelter syndrome is a chromosomal mutation due to the extra sex chromosome. It is a chromosomal disorder but is still due to the fact that it is random event. GENETICS OF THE DISEASE The additional X chromosome I found with the other two sex chromosomes making it a total of 47 chromosomes instead of 46 which leads to the male child's hormonal and sexual related abnormalities as the grow up. Klinefelter syndrome can be diagnosed through a physical examination, chromosome analysis, blood test and semen

The client had an L-hemisphere CVA on 8/11/10. After the stroke, the client was admitted for a 5 day acute care hospitalization and then into an inpatient rehab setting for six weeks for one hour every day. Through a speech evaluation, the client was diagnosed with a mild anomic aphasia and mild apraxia of speech. The client 's goals are to improve her mobility, communication, and return home. This session was a re-assessment six months after she was discharged from the inpatient rehab setting.

Andres, Andrew. Biology 196: Principles of Modern Biology I Laboratory Manual. Minneapolis: Bluedoor, LLC, 2015. Print.

The prominent features of this stage is reduced mobility, a curvature of the spine (scoliosis), muscle weakness, rigidity spasticity and an increase in muscle tone. Girls previously able to walk may not be able to walk anymore.

Most people avoid thinking of the idea of having one of their future children born with a genetic disorder. But this is not a realistic thought. A study made by the National Down Syndrome Society (2014) found out that about one in every seven hundred babies in the United States is born with Down syndrome, a chromosomal disorder caused by an error during the cell division. This results in an extra copy of the chromosome 21 which alters the brain and body development. People with Down syndrome are born with intellectual disability, some characteristic facial features and cognitive delays. It has been demonstrated that the possibility of a child being born with Down syndrome increases as the age of the mother increases, and clearly women have delayed their maternity especially

This research paper will discuss a specific disability called Angelman Syndrome. (AS) This Syndrome is a disorder, and can be diagnosed at an early age. AS don’t have a cure, but there are ways to treat this disorder. While reading this paper, you will become aware of the causes, characteristics, diagnoses, assessments and academics of Angelman Syndrome. By the end of the paper you will be able to understand how this disorder affects children and educators can assist a child with AS.

Cystic Fibrosis is a genetic disease that affects the lungs and the digestive system. Because this disease limits breathing ability, it is a life-threatening disease. In the United States alone, 30,000 people have cystic fibrosis and 1,000 new cases of CF are diagnosed every year. Over half the of the people with CF are over the age of 18. (About Cystic Fibrosis)

The reviewer in this case has been asked to address the following concerns related to this member:

Familial dysautonomia (FD), also called Riley Day Syndrome and hereditary and sensory autonomic neuropathy type 3 (HSAN3), is an inherited disorder that affects the development and survival of some sensory and autonomic neurons.4,5 It is almost exclusively present in Ashkenazi Jews. About 1 out of 32 Ashkenazi Jews are carriers. The disease frequency is 1 out of 3700 for Ashkenazi Jews.5 Familial dysautonomia is exceedingly rare in the non Ashkenazi Jewish population.

Sickle Cell Disease is known for being a disorder that effects the red blood cells, causing them to have low oxygen levels and forming sickle shaped blood cells. In order for a child to have sickle cell disease both parents must be carriers, but if only one parent has the trait, the child will only be a carrier for Sickle Cell Barakat, et. al, (2007). The most well-known fact with this disease would be the pain that comes with having Sickle cell disease Barakat, et. al, (2007). Many parents have no idea about the things, causing pain and many other issues that come with having this disease. The most commonly affected population