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Down syndrome
Down syndrome abstract sample
Down syndrome abstract sample
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Cri Du chat
Jerome Lejeune, a geneticist, distinguished Cri Du Chat syndrome in 1963: he also discovered down syndrome. The syndrome, in French, means ‘Cry of the Cat’. This syndrome is caused when the short arm of the 5th chromosome is deleted. Due to this deletion, multiple genes are missing. Therefore, this causes numerous disorders. (Who discovered Cri Du Chat, Explorable.com) Cri du chat is when the 5th chromosome out of the 24 chromosomes is missing. No one knows the cause of this deletion. It happens spontaneously, with no family history. This portion missing is exceptionally imperative for cell growth. Therefore, this will create whether it may be harmed or absent This develops throughout the advancement of the sperm or egg,
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Other affects are intellectual disability and deferred development in the brain. Miniature head measure, low weight, feeble muscle tone are some other affects. Facial features that may occur are wide-set eyes, low-set ears, a small jaw. A small percentage of children may develop a heart deformity. (Cri Du Chat Syndrome- GHR- https://ghr.nlm.nih.gov) The treatments do not help cure the disease, but it helps with certain problems. Some treatment options can be physiotherapy to improve poor muscle tone. Other options may be speech therapy to improved delayed speech. Furthermore, communication alternatives, such as dactylology, since verbalization is conventionally delayed, often astringently. And lastly, occupational therapy to edify coping strategies and incipient skills. (Better Health Channel- Treatments for Cri Du Chat) Some rare disorders include cleft lip palate, megacolon, dislocated hips, malformations, scoliosis, organ defects, and severe medical conditions. Also, feeding disabilities, walking disabilities, and significant retardation. Although they live in these conditions, the life expectancy for a person with Cri Du Chat is normal. Unless, the person has a life-threatening medical condition. (NHGRI- Learning About Cri du Chat
However, in a person with PWS, the 15th chromosome has been given 2 genes from the mother, and none from the father. This is called maternal UPD ( uni-parent disomy) in which 2 copies of the maternal chromosome are inherited with no paternal contribution. Despite the presence of 2 intact chromosomes, there is a functional abnormality in the imprinting that may lead to the absence of gene expression from the paternally donated chromosome, resulting in the PWS phenotype (physical trait) that is common in persons with PWS.
In hereditary CJD, the infected person has inherited an abnormal gene due a family history of the disease or takes a test in which their results are positive for a genetic mutation that is associated with Creutzfeldt-Jakob disease. About 5 to 10 percent of cases of Creutzfeldt - Jakob disease in the United States are hereditary and the United Kingdom has a population in the region of 58 million and there are only a few instances of deaths due to genetic CJD in a year.
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.
The disease Angelman Syndrome, named after the physician Harry Angelman, was first diagnosed in 1965. It is now known that the disease results from the loss of function of UBE3A, a gene. One is normally inherited from each parent. The copy inherited from the mother is active in certain areas of the brain. If this copy of the gene UBE3A is lost due to chromosomal change or gene mutation, the lost gene will not have active copies in parts of the brain. A majority (70%) of Angelman syndrome cases happen when a segment of the maternal chromosome 15 is lost or destroyed. A minority of the disease is caused by a mutation or loss of function of the mother’s copy of the UBE3A gene. The majority of cases result from uniparental disomy, which is when the son or daughter inherits two copies of chromosome 15 from his or her father. Translocation, or chromosomal rearrangement, can also cause the disease. Most cases of this disease are not inherited, instead are a result of deletion in the maternal chromosome 15. Across 1. 2 copies of chromosome 15 are inherited from the father Down 1 Person who first diagnosed this disease 2 Disease the magazine is about 3 A gene 4 a minority of this disease is caused by this 5 Chromosomal rearrangement DISEASE BACKGROUND PAGE 1
Turner’s syndrome is a genetic conditions that affects the female’s sex chromosome. In (http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001417/) Turner’s syndrome occurs when cells are missing all or part of an X chromosome. It’s common of the female patient to only have one X chromosome. Although, some individuals may have two X chromosomes but one is defective. It is thought that an estimated 1 out of 2000-2500 females suffer from this genetic condition worldwide but it’s usually females with this condition don’t survive their birth. Due to this abnormality, the genes that is defective “affect the growth and sexual development of the female” (http://learn.genetics.utah.edu/content/disorders/whataregd/turner/). However other disabilities and delays do occur even though these traits can vary case by case.
Turner’s affects the second X chromosome in a chromosome pair. This X is either incomplete or missing completely, which causes a decrease in fetal development and also a decrease in the development after birth. Since Turner’s affects the second X chromosome, this means that Turner’s only affects females. However, females of a certain race, nationality or those who live in a certain region of the world have the same risk of having Turner’s. One in every 2000 to 2500 baby girls are born with Turner’s, according to the National Health Service in the United Kingdom. Normally if a baby is conceived with an X chromosome missing, the body will naturally abort the baby, which is a miscarriage. Turner’s is usually the cause of almost 10% of miscarriages in the first trimester.
...s exist as an inherited disease in some families. The majority of case studies show that the patients affected have no family history of the disease.
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 most common way of getting Angelman syndrome is through chromosome deletion. This is responsible for about 68% of all cases o...
Catherine and Kirstie Fields are twins from Wales and the disease is named after them. The disease causes muscular degeneration. Fortunately those two girls are still alive and there has been no mutation in their brains and their personalities also have not changed.
Rett syndrome is a particular neurological disorder that is first found in the first few months of life and typically almost always diagnosed in girls, but can be seen in boys, rarely, but it is possible (International Rett Syndrome Foundation, 2014). Rett syndrome symptoms soon appear after an early period of regular or near regular development until six to eighteen months of life, when there is a slowing down or stopping of skills. A period of backsliding then follows when the young female child loses communication skills and purposeful use of her hands. Soon, the known physical handicaps became visible such as washing hands, difficulty walking, and head growth abnormalities, the head will grow slower than it supposed to. More symptoms that may be brought on by the syndrome can include seizures and rapid and/or slow breathing repetitions while the child is not sleep. In the younger years of childlife, there may be a time of separation or withdrawal when she is irritable and cries inconsolably. With time, motor skill problems may increase, but in generally, the irritability the child endures lessens and eye contact and communication improve (International Rett Syndrome Foundation, 2014). According to rettsyndrome.org, Rett syndrome is caused by mutations on the X chromosome on a gene called MECP2. There are more than 200 different mutations found on the MECP2 gene. Most of these mutations are found in eight different spots. It strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 to 23,000 female births (Rett Syndrome Foundation, 2014). It is not a degenerative disorder, saying that this syndrome does not cause the body or the mind of the infected child to become weaker. It also causes problems in brai...
homas Nast was a political cartoonist in the 19th century. Nast was born September 27, 1840 In Germany.(biography.com) Nast used comedy as a way to get political points across to readers. He was known for exposing the corruption going on with “boss” Tweed. Tweed was a corrupt politician that bribed his way to the top, which made him more money in the long run. Tweed was ok with articles being ran about him because the vast majority of his constituents were irish immigrants and could not read.(blog.mcny.org) They could understand Nast’s cartoons though. Nast’s cartoons played a major role in incriminating Tweed. Because of Nast, we in the 21st century now have media like South Park as a way to get across deep messages in humorous ways. South
Cri du chat syndrome - also known as 5p- syndrome and cat cry syndrome - is erratic genetic condition that is caused by obliteration of genetic material on the small arm (the p arm) of chromosome five. The reason of this erratic chromosomal deletion is unfamiliar.
Despite this being a severe condition that could become life-threatening, it can be succesfully treated if taken care of early enough. Furthermore, this condition is hereditary meaning that anyone who shares a bloodline with those that have this condition are at risk of receiving it. It can be diagnosed by a simple blood test to see if the patient has the gene mutation. This mutation can not be self-acquired or in other words, it is inherited because it is a gene mutation