Familial Dysautonomia Research Paper

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

It is an autosomal recessive lysosomal storage disease (metabolism disorder passed down through families) caused by a deficiency in one of the enzymes needed to break down the glycosaminoglycan heparan sulfate which is found in the extra-cellular matrix and on cell surface glycoproteins. It makes the body unable to properly break down the heparin sulfate sugar chain. The incompletely broken down heparan sulfate remains stored inside cells in the body and begins to build up, causing progressive damage. There are four types of sanflippo syndrome based on the defective gene that encode for the enzyme.

Abraham Lincoln was shown to have a tall/thin build, a long face, and enormous hands and feet. He shares the same symptoms of an individual suffering from Marfan syndrome. Marfan syndrome is a genetic disease that affects the connective-tissue of an individual. The connective tissues help the human body grow and develop by holding cells, organs, and tissues together. This disease is caused by mutations in a gene called “FBN1”. This gene holds the information to make a protein known as “fibrillin-1”. This protein is responsible for repairing tissues and controlling the growth throughout the body. The FBN1 gene is responsible for this mutation. This gene can reduce the amount of healthy fibrillin-1 proteins, thus resulting in instable tissues

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

This syndrome is caused by a deletion of chromosomes 15, however AS can be inherited through genes. (Charles Williams, 2015) Due to its rareness research is still being gathered. Angelman syndrome is a rare condition and

The disease Duchenne muscular Dystrophy (DMD) is the most common form of muscular dystrophy (1) in fact 3 out of every 10,000 births will result in a male born with this disorder (2). DMD is a recessive sex linked disorder that can only be passed down to the child if his mother is the carrier (2, 3). Symptoms for DMD are confinement to a wheel chair by the age of 11at the latest and are expected to die in their twenties to forties (2, 4). This is because DMD causes progressive muscle weakness and will reduce muscle tone throughout the body. Muscle weakness will usually begin its onset by the age of three (4). Other symptoms for DMD include pseudohypertrophy (the growth of an organ or a part due to an increase in the amount of other tissue that is fatty

What I admire most in the field of Occupational Therapy is that I get to make a profound difference in people 's lives. It is one of few careers where individuals get an opportunity to assist patients interpersonally, and help them achieve their goals with activities of daily living. What brings me a feeling of accomplishment and inner enlightenment is the opportunity to give people the chance to grow or start over. This train of thought arose when my grandfather had been diagnosed with pancreatic cancer, perhaps one of the most lethal carcinomas in existence. This period of time was rather challenging for myself, taking on the responsibility of assisting my virtually immobile grandfather. Given the fact that my grandfather exhibited severe

Fetal Alcohol Syndrome (FAS) is a syndrome diagnosed primarily at birth, has treatments and is easily prevented.

Duchenne Syndrome is caused by the mutation of a gene on the X-chromosome. A muscle protein, dystrophin, is affected by this mutation. The damaged gene cannot make enough dystrophin to work right, so it will result in DMD. Dystrophin is a protein that is associated with muscles in the heart, bones, and some in the nerve

Personal factors are within a child’s genes which influence their development and change how the brain works. This can influence a child’s personality and health.

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

Henoch-Schonlein purpura is inflammation of the blood vessels. This causes a rash of red or purple spots on the skin.

Trisomy 18, or Edwards Syndrome, was discovered by a man named John Hilton Edwards in 1960, and is a condition that causes severe developmental delays because of an extra chromosome 18. Edwards was a professor of genetics at Birmingham and Oxford, he first saw Trisomy 18 in stillborn and abnormal babies. Trisomy 18 is the second most common trisomy after Trisomy 21. Trisomy 18 is not inherited, but completely random, it is caused by an error in cell division known as meiotic disjunction. The following essay will go over the signs, symptoms, mutation, and how to make the child with Trisomy 18’s everyday life as normal as possible. (trisomy 18 - Genetics Home Reference)

Fibrodysplasia Ossificans Progressiva which is sometimes referred to FOP is a very rare genetic disorder in which bones grow uncontrollably to the point of causing disability (Fibrous Dysplasia). As one of the rarest and most disabling diseases, FOP causes bone to form in and over muscles, tendons, ligaments, and other connective tissues (What is FOP). Bridges of this extra bone develops across joints which causes immobility (What is FOP). These bridges also create a second skeleton that imprisons the body in bone.

According to Kathryn Krost and Stanley Henshaw in their article U.S. Teenage Pregnancies, Births and Abortions, 2008: State Trends by Age, Race and Ethnicity the United States alone has a teen pregnancy rate of 3 in every 10 teenage girls. Krost and Henshaw state how this means that 30% of teenage girls will get pregnant at least once before the age of twenty, which equates to about 750,000 teenage pregnancies every year. A study performed at the University of Texas at Austin shows that over the past twelve months about 3 in 5 pregnant teens have used one or more substances, which is a percentage that is nearly double that of nonpregnant teens. This sample included nearly 100,000 young girls from the ages of twelve to seventeen.