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Trisomie 21
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Josh Puckett
Trisomy 13 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. Prognosis for a child born with Trisomy 13 is very little but such babies are stillborn. Some babies with
Marfan syndrome (MFS) is known as an autosomal dominant hereditary disorder of connective tissue. Connective tissue helps support all parts of the body. It also helps control how the body grows and develops. Principal manifestations involve the ocular, skeletal, and cardiovascular systems. MFS is caused by mutations in the glycoprotein gene fibrillin-1 (FBN1) which is located on chromosome 15(Marcheix, 2008). There are many mutations that can cause Marfan Syndrome, but most common are missense in that they are single-nucleotide changes that result in the substitution of a single letter that leads to a single amino acid change in the protein. The change in the amino acid alters the shape of the fibrillin proteins. The irregularly-shaped protein then assembles into irregularly shaped microfibrils. Fibrillin is a major element of microfibrils, which store a protein called transforming growth factor beta (TGF-β), a critical growth factor. TGF-β helps control the proliferation of cells, cell differentiation, cell movement, and apoptosis. Microfibrils help regulate the availability of TGF-β, which is deactivated when stored in microfibrils and activated when released. The increase in TGF-β and abnormalities involving microfibrils causes problems in connective tissues throughout the body such as malformations and disfigurements of the ligaments, spinal dura, lens zonules, and lung airways(Marcheix, 2008). The heart is also greatly negatively impacted through a weakening of the aortic wall, progressive aortic dilatation or aortic disjointing can occur because of strain caused by left ventricular contractions.
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.
Individuals with trisomy 13 often have many abnormalities that can be major or minor in the development of a child in the womb. Due to the life-threatening medical problems, many children born with trisomy 13 die within the first few weeks or days after they are born. Only a few of children with this condition live past their first year after they are born. The condition is very difficult to discover until a child is born. Mainly because it involves brain and heart abnormalities that are life threatening. Poor diagnosis of patients with trisomy 13 has long been accepted and has been found to have many complex brain and heart malformations. The child may live longer with heart or brain surgery but it is still rare to live past the age of 3 months. Surgery is tried to be avoided the most because of the child
Peterson-Iyer, Karen. "Confronting a Fetal Abnormality." http://www.scu.edu. Santa Clara University, Jan. 2008. Web. 13 Mar. 2014. .
Marfan syndrome is an inherited disorder that affects the connective tissue of the body (“What is Marfan Syndrome?” n.d.). The connective tissue plays a vital role in supported the tendons, heart valves, cartilage, blood vessels, and more parts of the body (“Connective Tissue,” n.d.). “What is Marfan Syndrome?” (n.d.) explains that the condition has no cure, and those who have it lack strength in their connective tissue, affecting their bone, eyes, skin, nervous system, and lungs. Furthermore, Marfan syndrome is common, and it is imperative to understand how the body is affected by it, the symptoms, and the treatment of this condition.
Familial dysautonomia affects the development of sensory neurons. It affects two important nervous systems: the autonomic nervous system, which controls a persons involuntary actions, and the sensory nervous system, which controls a persons senses. It starts at birth and shortens a victim’s life span drastically. (Genetics Home Reference)
While pregnancies with a trisomy (a baby which has receive an extra chromosome) or a monosomy (have a missing chromosome) may go to full-term and result in the birth of a child with health problems, it is also possible that the pregnancy may miscarry, or that the baby is stillborn, because of the chromosome abnormality. In studies of first trimester miscarriages, about 60 percent (or more) are chromosomally abnormal. In studies of babies who are stillborn, 5 to 10 percent have a chromosome
The human genome is a remarkable system composed of over 3 billion DNA base pairs that encode for the characteristics that makes people distinctly human and unique themselves. Without the genome’s nearly flawless ability to self-replicate the human species would cease to exist. As incredible as this replication methodology is, it is not without its faults. Genetic mutations, though rare and typically harmless, can strike at any time and in various ways. Still, when they do cause harm the effects can be profound and impossible to ignore. Hutchinson-Gilford Progeria Syndrome (HGPS) is an instance where the mutation of just one nucleotide has devastating results. The Mayo Clinic defines progeria as a progressive genetic disorder that causes children to age rapidly, beginning in their first two years of life. This study defines the disease of progeria by outlining symptoms and identifying causes that lead to its diagnosis. In addition, treatment methods and extensive research that give those affected by the disease hope for a brighter future are highlighted.
When someone has three chromosomes in chromosome 21, it means you have Down syndrome. I know that the gene mutation in the picture is Down syndrome because when you have three chromosomes present, people tend to use the term "trisomy," which is also known as Down syndrome. Down syndrome a genetic disorder that affects not only the child or person with it, but also everyone else. Down syndrome is a mental and physical genetic disorder that is very rough on someone.
The most common way of getting Angelman syndrome is through chromosome deletion. This is responsible for about 68% of all cases o...
This can be diagnosed during the pregnancy or after the baby is born. “Anencephaly would result in an abnormal result on a blood or serum screening test or it might be seen during an ultrasound.” This birth defect is more common in girls than boys. There is also no cure or standard treatment since most die shortly after birth. As a way to offer support to these families, many hospitals offer perinatal hospice care. A perinatal hospice approach helps these families through the process: pregnancy, birth, and death. ("Facts about
In his chapter “Chromosome 21: Eugenics,” Matt Ridley argues that the main reason eugenics is wrong is because it requires the removal of basic human rights. He begins with a brief history of eugenics, how it began in Britain, and how it spread to the rest of the world. Ridley points out numerous times in this chapter that many countries used eugenics for personal or political gain. When Karl Pearson, one of the earliest eugenics supporters, brought eugenics to Britain, it was under the belief that it would keep Britain ahead of other countries and produce a better population. In Germany, the population accepted eugenic beliefs because they believed that it would better the economy, population, and wealth structure. The United States even used eugenics for political reasons, like anti immigration. While most of these countries ended up with sterilization and marriage laws, Britain was one of the few that never adopted either.
Most cases of Down syndrome are not inherited. When the condition is caused by trisomy 21, the chromosomal abnormality occurs as a random event during the formation of reproductive cells in a parent. The abnormality usually occurs in egg cells, but it occasionally occurs in sperm cells. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 21. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra chromosome 21 in each of the body's cells.
In any woman’s life having a child is a very emotional and scary thing. Depending on the age of the woman many questions may arise about how the fetus that is growing inside her will develop. With increase in age come many complications that would not normally affect a child-baring woman that was younger. Such complications include Downs Syndrome, complications that affect the growth and development of the fetus or child, and a defect that I just learned about that is called Trisomy 13. If you were able to ask any expected mother or parents about what they would want the most as far as their baby goes they would probably say that they just want to make sure that their child is health. Our job as healthcare providers is to make sure that our
All parents want their children to be healthy and live an amazing life, but what if you know your child won’t be born healthy and might not live for that long? Do you try to enjoy the time you will have with your child or do you start over and try again? These questions are what some couples must face if the tests show a disability in the fetus. For some women and couples, the decision to have the baby or not is an easy choice, but for others, it’s one of the hardest decisions they have ever made. There have been scenarios where a woman gets an abortion and regrets it for the rest of their life, but there have also been scenarios where a woman’s test comes back positive for a disability but she goes through with the pregnancy anyways and the child passed away less than a week after. Although the new screening tests are highly accurate and noninvasive (Peter Wieacker and Johannes Steinhard), there has been instances where a test came back positive for a disability and the child was born healthy. In an article by Susan Donaldson James on NBC News, a couple is featured that has a healthy 6-month old son that almost got aborted due to a prenatal test that was wrong. The test revealed that the fetus had Trisomy 18 and the doctor told the couple to prepare for the worst (James). Since there is a slight chance of the test being inaccurate one reason why