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Recommended: Turner syndrome
Turner Syndrome is a disease where only girls/women are affected. Basically this disease is when a sex chromosome is or is partially missing. This can result to short height, failure to start puberty and normal time, infertility, heart defects, learning disabilities, and social adjustment problems. Turner sydrome can be diagnosed before birth, during infancy, or early childhood. Often times it is diagnosed in later teen years to even early adult. All women that have the disease normally need ongoing medical care to stay healthy. Symptoms to watch out for before birth are large fluid collection on the back of the neck or other abnormal fluid sacs, heart abnormalities, or abnormal kidneys. During infancy symptoms can involve wide or weblike
Genetic disorders can be caused by many of the 46 chromosomes in human cells. This specific disorder is linked to a mutation in the long arm of the X, or 23rd chromosome. The mutation is recessive, meaning a normal X chromosome can hide it. Females have two X chromosomes allowing them to hide the mutated recessive one, making them a carrier of the gene, while males only have one X chromosome, meaning that they are unable to hide the mutation and they become effected by the disease. Therefore if a male carries the gene, he is affected because he has no way of dominating the recessive gene, but if a female carries it, she is only a carrier and has a 50/50 chance of passing it on to her baby. This may seem like a high probability however, only one in every fifty thousand male births will have this immunodeficiency disease.
Duane Syndrome is an inherited unusual type of strabismus (squint) most often described by the incapability of the eye(s) to move inwards, outwards individually or together. This was first reported via ophthalmologists Jakob Stilling in 1887 and also Siegmund Türk in 1896. The syndrome was named after Alexander Duane, who explained the disorder more specifically in 1905. The syndrome is described as a miswiring of the eye muscles, causing eye muscles to tighten when they don’t need to and other eye muscles not to tighten when they need to. Very often patients get the syndrome by the age of 10 and it is more common in females (60% of the cases) than males (40% of the cases). Although the eye is usually the abnormality associated with Duane Syndrome, there are other bodily functions that can be affected. Duane syndrome cannot be cured, because the cranial nerve is missing and it cannot be replaced. The gene known as “SALL4” has been associated as a cause of this condition.
Because Williams Syndrome is very uncommon within a large crowd among people, the causes that are known to trigger the disorder are very few. The causes or conditions that are known to trigger Williams Syndrome is by the deletion of twenty-six to twenty-eight genes on chromosome #7. Many people may conclude that just because Williams Syndrome is a “genetic” disorder meaning that it has to be inherited from their parents are incorrect. Most people may not inherit Williams syndrome because the chances of his or her child to inherit the syndrome is a low 50/50 chance. That is because when the deletion of the 26 – 28 genes that takes place within the chromosome number seven are of what randomly chosen events that particularly occur in the male or female eggs or sperm .When dealing with Williams syndrome many symptoms may come upon the person with this disorder. Some of the symptoms may be not be that eye catching or life threating but some, however some can be life threating. In resulting the person to ...
Cushing syndrome occurs when your body is exposed to high levels of the hormone cortisol for a long time. The most common cause of Cushing syndrome, sometimes called hypercortisolism, is the use of oral corticosteroid medication. The condition can also occur when your body makes too much cortisol. This can be caused by a variety of tumors cancerous and not; Ectopic ACTH Syndrome, Pituitary Adenomas, and Adrenal Tumors. Too much cortisol can cause many body symptoms including: a fatty hump between your shoulders, a rounded face, and pink or purple stretch marks on your skin. Other causes not seen on the body are: high blood pressure, bone loss and, on occasion, diabetes.
Trisomy 13 is the presence of three copies of chromosome 13, rather than the normal two. The patient's prognosis with trisomy 13 has been accepted for a long time and has been described as brain and heart deformation. It has been suggested that the long term survival is better than was previously thought and that cardiac surgery may be justified. Trisomy 13 has another name called Patau syndrome. An extra copy of the 13th chromosome could result in neurological and heart defects, this makes it almost impossible for infants to survive. More than 80% of the children born with Trisomy 13 die within the first year.
Jacob Syndrome is a rare condition where males contain an additional copy of the Y chromosome in their cells. According to the Genetic and Rare Diseases Information Center, (GARD, 2012), other names for Jacob Syndrome include: 47, XYY syndrome, XYY Karyotype, and YY syndrome. Statistics from Genetics Home Reference (2014) state that Jacob Syndrome appears in approximately 1 in 1,000 male newborns. In the United States, 5 to 10 male newborns have Jacob Syndrome.
Turner syndrome occurs in approximately one in every 2,000 female births (Overview par. 1). Every one in 2,000 girls born may not seem like a great deal, but adds up to be eventually. No matter how many girls have Turner syndrome, they all face challenges because of the chromosomal disease. The syndrome was first discovered in 1938 when Henry Turner published a book about seven girls who shared unique features. The exceptional features included, “short stature, lack of sexual development, cubitus valgus (arms turning out slightly at the elbow), webbing neck, and a low hairline in the back” (Davenport 3). Not all girls with Turner syndrome face the same exact problems, but a majority of them do. Short stature and non-working ovaries are the characteristics Turner’s guarantees. Turner syndrome is now defined as “a chromosomal condition that alters development in females” (Learning About Turner syndrome par. 1). The condition is not inherited, but is indeed genetic. Although girls with Turner syndrome may be more prone to various health issues, with love, support, and some minor accommodations, they can live their life with positivity and happiness.
...e baby still seems to have too much fluid in his or hers mouth or nose, the nurse may do further suctioning at this time. At one and five minutes after birth, an Apgar assessment will be done to evaluate the baby's heart rate, breathing, muscle tone, reflex response, and color. If the baby is doing well, the mother and the baby will not be separated. The nurse will come in from time to time to change diapers, check the babies temperature, and perform other tasks while the baby spends time with his or her mother and father (B. C. Board).
The signs and symptoms of TGA are blueness of the skin, trouble breathing, and poor feeding. Blueness of the skin is also known as cyanosis. If these symptoms do not appear while in the hospital you should get emergency help. Usually it is the lips and face to appear cyanotic. Some symptoms depend on if the baby has another defect also. “TGA is a cyanotic Heart defect that leads to a bluish-purplish skin coloring and shortness of breath” says the CDC. Surgery will be needed within the first week of life.
Chairs are banging around, people are rushing within the room trying to find the keys to the closet, dinging plays from the handbells as they accidentally hit one another, all while people boast about their weekend adventures. Smiles appear at the top of the stairs as people arrive. Every Tuesday in the small basement of the local church, people get together to form the Angel Handbell Choir. The difference between this choir and the usual handbell choir is that the members all have some sort of mental disability. In this group there are about twenty people, a couple of them being Becky, Darlene, Ryan, Chris, and Thomas. Each of these people having some sort of disability, but that isn’t what makes them unique. This choir was formed not only
According to Ralf Sudbrak and other authors, a mutation in the gene ATP2C1 is associated with the cause of the Hailey-Hailey Disease. The disease is an autosomal dominant inherited skin disorder. The defect in the gene alters the expression of calcium pumps thus altering calcium signaling and their role in maintaining the epidermis (Sudbrak et al. 1). The gene encodes a protein that acts as a calcium pump in cells. This protein pumps calcium ions into the lumen of the Golgi apparatus. Calcium ions are vital in cell-to-cell adhesion processes and differentiation, and if the calcium pump does not function properly, the affected cells will not stick together, thus causing damage to the skin (Szigeti 1). The protein encoded by ATP2C1 has the same transmembrane organization, including all the conserved domain characteristics like ATP binding, phosphorylation, and conformational changes enzymes, of Phosphorylation-type (P-Type) ATPases (Sudbrak et
Sex-linked disorders only affect males and are passed down through female carriers. A boy inherits the disorder when he receives an X chromosome with a mutated dystrophin gene (the genetic cause) from his mother. The dystrophin gene is the largest gene found in nature and was identified through a positional cloning approach. It's a highly complex gene, a large rod-like cytoskeletal protein which is found at the inner surface of muscle fibers. (www.ncbi.nlm.nih.gov)
He published a comprehensive medical description of the syndrome. It was not until 1959, that it became clear the syndrome was due to lack of sex chromosome material. Turner's Syndrome is a rare chromosomal disorder that affects one in approximately 2,500 females. Females normally have two X-chromosomes. However, in those with Turner's Syndrome, one X chromosome is absent or is damaged.
Many of the disorders identified by newborn screening programs are heterogeneous. For proper screening, specialized laboratory testing, interpretation, and treat...