Reading Responses Assignment Example | Topics and Well Written Essays - 250 words

Reading Responses - Assignment Example Further, her contentions that Clinton failed to gauge and evaluate the audience by not fitting the social norms were not appropriately substantiated. The audience would most predominantly be composed of both the male and female gender and the effectiveness of the speaker depends not solely on fitting the social norm, but in addressing the purpose of the speech that caters to the needs of the audience. The arguments that finally shift the blame to the American public for Clinton’s supposed failure as a rhetor was equally ludicrous. An effective rhetorical analysis should have used pathetic, logical and ethical appeals that are fair, objective and credible. Does it mean that because Clinton was manifesting her experience as a lawyer, expert, and advocate, she is already exhibiting a masculine speaking style? Do these roles and responsibilities only fit the male gender and render them befitting for

ICT and society portfolio section Essay Example for Free

ICT and society portfolio section Essay Microsoft word Microsoft Word is a word processor program from Microsoft. It was originally written by Richard Brodie for IBM PC computers running DOS in 1983. Later versions were created for the Apple Macintosh (1984), SCO UNIN, and Microsoft Windows (1989). It became part of the Microsoft Office. Microsoft word is a software package which can be used for school work, course work, home work or personal work such as making posters or fliers. So it is extremely useful, especially if you have untidy handwriting because Microsoft word can improve your presentation not only by improving your writing but also can improve presentation by adding pictures, this can be done using a feature called clipart which allows me too insert pictures to my work. Another good point about this is that it has a feature called spell check, which is handy if you are bad at spelling because if you spelt a word wrong then it will either automatically correct it or show you a list of words to help you. The only bad point about spell check is that it doesnt recognise every word and that sometimes it uses the American spelling of words. Other god points include the fact that if you are doing something such as an essay or coursework which requires a lot of writing because you can easily change your words if you make a mistake whereas if you were writing it out by hand then you would have to rewrite everything from the beginning. Microsoft Excel Excel 2003 enables you to turn data into information with powerful tools to analyze, communicate, and share results. Excel 2003 can help you work better in teams, and help protect and control access to your work. In addition, you can work with industry-standard Extensible Mark-up Language (NML) data to make it easier to connect to business processes. Just like Microsoft word, excel is a software package which can be used for school work, course work, home work or personal work. Mostly excel is used in business in order to keep track of financial status and to record data required to run a business. The good points about Microsoft excel is that you can use features such as auto sum which allows you to quickly and easily count up numbers, another feature is the graph function which allows you to create graphs easily, the graphs make the figures easier to understand and improves presentation. Microsoft access Microsoft Access is a relational database management system from Microsoft, packaged with Microsoft Office Professional. Microsoft Access can use data stored in Access/Jet, Microsoft SQL Server, Oracle, or any ODBC-compliant data container. Skilled software developers and data architects use it to develop powerful, complen application software. Relatively unskilled programmers and non-programmer power users can use it to build simple applications without having to deal with features they dont understand. Microsoft Access was also the name of a communications program from Microsoft, meant to compete with ProComm and other programs. This Microsoft Access proved a failure and was dropped. Years later Microsoft reused the name for its database software. Microsoft access is normally used in areas such as hospitals in order to keep a record of all the patients. Another area where databases are used is in buissness in order to keep track of financial staus and contacts. Microsoft PowerPoint Microsoft publisher Microsoft Publisher is a desktop publishing application from Microsoft. This program helps you easily create, customize, and publish materials such as newsletters, brochures, flyers, catalogs, and Web sites. It is very neat and tidy and improves presentation. People who work in the advertising industry might find publisher very useful because it is very quick and easy to use.

The Processes Of Conceptualisation And Operationalisation Social Work Essay

The Processes Of Conceptualisation And Operationalisation Social Work Essay This paper will begin by examining what is meant by conceptualisation. Using examples, it will demonstrate how broad theories are narrowed down to mid-range theories showing how this refinement can aid a practical and achievable study, within a realistic timeframe. This essay will then introduce the process of operationalisation and explain how variables and indicators are used as aids in specifying exactly what is being observed. The subject of child abuse will be used throughout the paper where different appropriate examples will be used to clarify meaning. Two reports in particular, The Murphy Report (2009) and The Ryan Report (2009) both child abuse studies will be used. This essay will further clarify the conceptualisation and operationalisation processes by outlining the three main steps involved. These steps will be explained and examples of their use in research studies will be demonstrated. In all research studies great emphasis is placed on the accuracy of information presented. As such, reliability and validity will be briefly discussed at the concluding section on indicators. This paper will then present a summary of the main points of this essay. To conclude, this paper will emphasise the importance of employing the processes of conceptualisation and operationalisation to a research study. Social researchers are concerned with examining the relationship between human interactions of people and the society in which they live in. It is not possible however, to do a broad study on human interactions and society in one research project. Researchers therefore, will concentrate on a specific aspect of some social issue. This process begins with a definition of the chosen topic, for example assuming the topic was based on poverty. There are different elements that need to be considered. Poverty could include income poverty, living conditions, diet or any other element that prohibits people from fully partaking in society (Lister, 2004). Before a study begins, the researcher should ideally determine what aspect of poverty is to be examined. It may be for example, the impact of a reduction in child benefit to families already living below meridian income level. Here a researcher may concentrate his or her study on how even lower income further prohibits families from fully participating in society. In this case the researcher may use the theory of social exclusion. However, social exclusion is a very broad concept and researchers will generally look at other, mid range theories or form their own, for example, reducing benefits to lower income families can have effects on childrens health. Having determined which aspect of poverty to study, the researcher will then decide what it is, and what it is not, they are trying to find out. This process is part of what is termed conceptualisation (Geraghty, 2008). Conceptualisation is the process of narrowing down, confining, defining and explaining, what it is, that is being examined. It is concerned with what is meant by a term (Geraghty, 2008). In undertaking research studies, the researcher has to be clear about what aspect of a social phenomenon is being studied. Just as importantly, the completed study must also demonstrate to the readers, that the study has dealt with and answered the specific starting research question. To demonstrate what has been explained thus far, this essay will take an appropriate example to convey more clearly how conceptualisation works. In Ireland over the last two decades there has been extensive media focus and attention on Child Abuse. Considering child abuse as a research study, it is important to understand the scale and scope of the topic. One of the first things to be considered is the definition of child abuse. As the example is taken from an Irish context, it is appropriate to quote The Commission to Inquire into Child Abuse Act, 2000 which states child abuse as: The wilful, reckless or negligent infliction of physical injury on, or failure to prevent such injury to, the child. The use of the child by a person for sexual arousal or sexual gratification of that person or another person. Failure to care for the child, which results in serious impairment of the physical or mental health or development of the child or serious adverse effects on his or her behaviour or welfare. Any other act or omission towards the child which results in serious impairment of the physical or mental health or development of the child or serious adverse effects on his or her behaviour or welfare. (The Commission to Inquire Into Child Abuse Act, 2000 ). From this definition it can be deducted, there are four main types of abuse that constitute the concept of Child Abuse in Ireland. These are physical abuse, neglect, sexual abuse and emotional abuse. In undertaking research on Child Abuse, the researcher may confine the study to one aspect, such as neglect. This may be further refined by looking at a hypothesis or theory of neglect as a topic such as, the impact of parental drug dependency on Irish children within the family. By narrowing down and focussing on specific research questions related to the topic it is easier to produce a relevant, meaningful and practical research study. Conversely, if a researcher were to ignore this approach and deal with the topic of Child Abuse only as a topic, there are many aspects and questions that would have to be considered. These could include all the different types of abuse at an international level over huge timeframes. To further examine and explain the process of conceptualisation this es say will give another example from an actual Irish research on Child Sexual Abuse. The Murphy report (2009) was commissioned to examine the allegations and suspicions of child sexual abuse against clerics in the Archdiocese of Dublin over the period 1975 to 2004. The author takes this report as a further example of conceptualisation as it specifically details exactly what it was set up to find out. It examines allegations of child abuse against clerics; here it is not concerned with lay people or other children. The study was confined to the Archdiocese of Dublin, not Ireland as a whole. Finally, the report was focussed only on the period spanning 1975 through to 2005. This conceptualisation made it very clear what exactly the research was to encapsulate. The previous paragraphs discussed specification of meaning of terms whilst this example demonstrates evidence of clarification of concepts. The Operationalisation process is also concerned with specification but on a different more detailed scale. Operationalisation is a process where certain variables are employed as aids in specifying what exactly is being observed and just as importantly, specifying and demonstrating, how exactly observation will be carried out. It is important to understand what is meant by the term variable. In defining the term Giddens explains it as: A dimension along which an object, individual or group may be categorised, such as income or height, allowing specific comparisons with others or over time (Giddens, 2001,p.701). Other concepts such as class or satisfaction can not be observed (Bell, 2005). Ways of measurement must therefore be determined. Rose and Sullivan (1996) are cited by Bell (2005:p.139) to show how the concept of class might be measurable. They write that: If we wish to understand something about class (a concept and therefore†¦not observable), what can we observe in the world which manifests class? That is, what indicators can be used for class so that we can obtain data about class? This is the essence of the measurement problem and when we link an unobservable concept with an observable indicator we are producing operationalisations. (Rose and Sullivan 1996:12-13). The authors do not expand on this quote but indicators of class for example may be based on salary, housing or education. These are elements of the concept of class and are measurable. In the previous example of The Murphy Report the term Child Abuse was seen to be defined under four main headings. These could also be taken as the variables, a specification of what aspects of child abuse will be researched. Continuing with the operationalisation process, having identified variables the researcher will then need to devise indicators to measure the concept (Bryman,2004). Thus far this paper has attempted to portray an understanding of conceptualisation and operationalisation. In doing so, it was also necessary to include references to variables and indicators. The next section of this paper necessitates further explanations of these terms. The three main steps in these processes are defining concepts, identifying variables and developing measurement indicators (Geraghty, 2008). This paper will outline each of these and provide appropriate examples that are continuing on the subject of child abuse. In examining what is meant by conceptualisation this paper explained the complexity of undertaking a broad research and detailed ways in which a subject or topic could be narrowed down and refined. Geraghty (2008) explains it as using a theory to identify concepts at the core of a research study. An example of poverty was given at the start of this paper demonstrating different elements of the topic that could merit a research study on their own, for example income poverty. Defining concepts also involves researching current and previous definitions on the subject. Previously in this paper a definition of child abuse was taken from The Commission to Inquire into Child Abuse Act, 2000. A definition from an American study over twenty years earlier gives a legal definition as: The physical or mental injury, sexual abuse, negligent treatment, or maltreatment of a child under the age of 18 by a person who is responsible for the childs welfare under circumstances which indicate the childs health or welfare is harmed or threatened thereby.'( Bradbard and Watkins, 1982). Although these definitions are similar to a degree there are some differences that may be important in specifying elements of a concept. The Irish definition for example does not specify an age level whereas the American definition specifies under the age of eighteen. The Irish example does not specify that the abuse is by a person who is responsible for the childs health or welfare. There are many other definitions of abuse that may also include exploitation or other elements as a variable. What is seen as abuse in one culture may be accepted as normal practice in another, such as child marriages. Researching such definitions helps to give a clearer aspect of a concept and may be useful in identifying other relevant elements for consideration. Having looked at defining a concept the next step is to identify variables. Identifying variables is an important part of the conceptualisation and operationalisation process. It involves examining different dimensions of a topic that need to be considered to capture exactly what is being observed (Geraghty, 2008). As with defining concepts it is important to research previous studies to capture what variables other researchers used and how they applied them (Geraghty, 2008). Previously this paper referred to the Murphy Report (2009), which was primarily concerned with child sexual abuse and clerical involvement. In this case only the sexual element of abuse was researched. Taking sexual abuse as the subject necessitates determining variables of Child Sexual Abuse. These may include social status, incest and institutional settings. Another report, the Ryan Report (2009) studied Child Abuse in Irish Industrial schools and childrens institutions spanning several decades up to 1974. This report, in dealing with child abuse broke abuse into four variables; physical abuse, neglect, sexual abuse and emotional abuse. There has been huge media attention on the subject of child sexual abuse in Ireland, so much so that there may be a tendency to automatically assume that the term child abuse is relating to sexual abuse. However, by conceptualising and breaking the term into variables, child abuse captures other aspects which are just as important in their own right. In an editorial from Child Links, Barnardos on the subject of child abuse categories say: Of these, the largest number of cases that come to the attention of the authorities are cases of child neglect. In 2003, of the 4,984 children who were in State care, 24% of these children had been neglected. Yet it is the sexual abuse cases that are highlighted more in the media. (Conroy, p.9). This quote along with the example of the Ryan report demonstrates how the use of variables more readily captures elements of child abuse that might otherwise have been overlooked. Variables are important in identifying aspects of a concept to be studied. There is also a need to measure the information and data accumulated under each variable or show what was used to determine the data. At this juncture the third and final step of the conceptualisation and operationalisation process will be explained. Indicators are measures that should link to the variable. There can be numerous indicators for each variable depending on the research subject. In taking the variable of neglect for example, it could be measured using a number of indicators that may themselves be broken down to further indicators. One indicator may be a physical indicator from which other indicators may be taken, such as loss of weight, poor or inadequate shelter or poor health. Another indicator such as behavioural could be broken down to further indicators such as leaving school early, alcohol abuse or crime. The Disabled Persons Protection Commission in Massachusetts USA (2010) lists twenty-three separate indicators for physical abuse including burns, scalds, bites, cuts and more. Indicators can be used to determine the presence or absence of what is being researched (Geraghty, 2008). However, not all researches may require so many, Bryman (2004) argues that in much quantitative research there may be only one indicator of a concept used. Although indicators are extremely useful in research, care must be taken, especially in areas like child abuse, as even with indicators, signs are not always readily visible. In its national guidelines for the protection and welfare of children (2004) the Department of Health and Children expressed caution on this when issuing their own guidelines. To conclude this section on indicators it is important to understand that the indicator used should stand up to accurate measurement. In social research, validating examines the accuracy of measurement and is considered the most important criterion in social research (Geraghty, 2008). Another important criterion in social research is reliability. Reliability estimates the consistency of procedures used for collecting data even at different times with different subjects (Geraghty, 2008). Validity and Reliability as discussed are key criteria in research and merit a separate paper to fully explain their importance in research studies. The author has introduced them at this point to show that not only are indicators useful in breaking research studies down into manageable portions they are critical components necessary for the validation of a study. This essay commenced by referring to the complexity of undertaking a broad research study. An example of the term poverty was presented as a broad theory that encapsulates many dimensions, such as income poverty and childrens health. The author explained how broad based theories can be broken down into mid range theories through the use of an appropriate research question. The example proffered being, how the reduction of benefits could affect childrens health. This demonstrated that in breaking down the theory of poverty it is easier to determine what exactly the researcher is trying to find out. The author identified this process as conceptualisation. The operationalisation process was then outlined, specifying the importance of understanding how exactly, observation should be conducted. The three main steps of the process of conceptualisation and operationalisation , defining concepts, identifying variables and development indicators were outlined. In doing this, examples of the Murphy and Ryan reports were used to demonstrate all three of these steps. The essay concluded with measurement indicators and stressed their importance not only as tools in observation through measurement but also as vital components of validity and reliability criteria. Although it is possible to undertake a research study without the employment of detailed methodologies, a research can be more focussed with an investigative plan. Whilst this paper did not look at the many and varied tools of research methodology, it did however concentrate on useful and important processes that help ensure that correct and relevant information is gathered. The purpose of any research is to gather information on a subject or social issue. Employing methods that ensure the correct, measurable data is gathered in relation to the subject is well served using the processes of conceptualisation and operationalistion.

A Definition Of Monopoly Economics Essay

A Definition Of Monopoly Economics Essay Monopoly is an industry that has only one firm that sells a good which has no close substitutes. Monopoly firms also represent industries because there are no other firms in the market. Products that are from monopoly market are electricity, water, cable television, local telephone services and many more. Examples of monopoly firm in Malaysia is Tenaga Nasional Berhad, TNBs unique position as a monopoly in the generation, transmission and distribution of electricity in Peninsular Malaysia. TNB is the only firm that provides us electricity to every building in Malaysia. Another monopoly firm in Malaysia that only provide sewerage services is Indah Water Konsortium Sdn Bhd. Indah Water Konsortium is the only firm in Malaysia that mainly responsible for operating and maintaining the public sewage treatment plants and network of underground sewerage pipelines. Characteristics of Monopoly Market One seller and large number of buyers Monopoly market characteristics are they is only one producer or seller in the market and there are many buyers. Therefore, the firm had the power to control the whole market whether it is from the angle of determining the price or the quantity of production. A monopolist has the power to determine the level of price because there is no competition from other firms. Therefore, if the monopolist intends to sell a bigger quantity, it has to reduce the price. This means that the monopolist can only control the price or the quantity of sales, and not both at once. No close substitution Furthermore, monopoly firms goods have no substitutes, its means consumers have no choice other than what is produced by the monopolist and they cant find any substitute of the product. For example, Telekom Malaysia is a firms that provide home telephone services which has no close substitutes but if the buyer can find another firms that provide home telephone service therefore the product is no longer in monopoly. Restriction of entry of new firms All the competitors are prevented from entering the market due to strict barriers to the entry of new firm. To restrict the entry of new firms into the industry, there are barriers to entry that are natural or legal restrictions. There are no competition faces by monopolist is because of barriers of entry. Advertising A monopolist doesnt need to advertise their product or services to increase sales because monopolist had the right to control the market and consumers know where to obtain the products and they have no choice to buy from other producer. Monopoly firms that provide local public utilities such as water, electricity and home phone services doesnt need to advertise since they are the only firms that provide it and customers had no choice to buy it from another firm. Intro to Question 2 It is traditional to divide industries into categories according to the degree of competition that exists between the firms within the industry. There are four such categories. First of all is perfect competition is the market where there is a large number of buyers and seller. The goods sold in the market are homogenous where most of the goods are alike and most likely the same. Therefore, sellers can easily enter and exit from the market. Most of the agricultural goods are included in perfect competition market such as vegetables, fruits, rice, coffee beans, wheat, primary commodities, gold, silver and others. Second will be monopolistic is a market structure in which there are large numbers of small sellers selling differentiated products but these are close substitute products and have easy entry into and exit from the market. Most of the products in monopolistic competition are substitutes and the only differences of the products are such as branding. Unlike perfect competition, in monopolistic competition market, most of the products are different, but goods are close substitutes for one another. Products that are under monopolistic competition are shoes, clothes, books, watches, toothpastes, soaps, ice creams, chocolates and many more. Next will be oligopoly, where it is a market structure in which there are only one firms selling either standardized or differentiated products and it restricts the entry into and exit from the market. Due to difficult or impossible for new firms to enter the market, most of the firms in oligopoly market can earn abnormal profits in long run. Examples for this market are cigarettes, automobiles, electrical equipment and cement Lastly monopoly, where it is only exists when an industry or market has only one producer. Most of the public utility firms are in monopoly market. Features of the four market structures Type of Market Number of Firms Freedom of entry Nature of product Examples Implication for demand curve for firm Perfect competition Very many Unrestricted Homogeneous (Undifferentiated) Cabbages, carrots, local farmer (these approximate to perfect competition) Horizontal. The firm is a price taker. Monopolistic competition Many/several Unrestricted Differentiated Builders, restaurants Downward sloping, but relatively elastic. The firm has some control over price Oligopoly Few Restricted 1. Undifferentiated 2. Differentiated 1. Cement 2. Cars, electrical appliances Downward sloping, relatively inelastic but depends on reactions of rivals to a price change Monopoly One Restricted or completely blocked Unique Public utility Downward sloping, more inelastic than oligopoly, The firm has considerable control over price Comparison of Perfect Competition and Monopolistic Competition Similarities There are large number of firms in both markets. Seller from both markets are easily enter and exit from the market. The firms maximizes profit when MR is equal to MC. Firms from both market may earn economic profit or normal profit or incur losses in short run. While in long run, perfect competitive and monopolistic competitive firms earn only normal profit. Differences of Perfect Competition and Monopolistic Competition The forces of demand and supply for the entire industry determine prices in the perfect competition market. While, in monopolistic competition market, every firm has its own price policy. In can be conclude as perfect competition firms are price takers and monopolistic firms are price makers. A perfect competitive firm sells homogenous products while monopolistic competitive firm sells product that are differentiated product. Product differentiation may lead monopolistic competition in selling cost. There are large number of firms that are in perfect competition while only fairy large number of firms in monopolistic competition. A perfect competitive firms demand curve is perfectly elastic and MR curve is equal to average revenue curve but in monopolistic competitive firm, the demand curve is downward sloping and MR curve is also downward sloping, which lies below the average revenue curve. Differences of Oligopoly and Monopoly Oligopoly is a market structural in which there are a few number of firms in the industry that produce either identical or differentiated product.

Technological Advancements :: essays papers

Technological Advancements On November 7, 1940 the Tacoma Narrows Bridge was hit by winds of up to 40mph. The bridge began to twist and flutter. Some cables snapped and a six-hundred foot section of the bridge fell into Puget Sound. ^Wind is but one disaster, earthquakes are another^ (Jay Stuller 36). Disasters like this one and others could have been avoided if the proper precautions had been taken. Due to the disasters in the world the structures of today and tomorrow are much safer. Today most of these catastrophes are avoided because of the up to date technology, like architecture, predicting the disasters before hand and new techniques used by emergency rescue teams. Some major advances in today^s buildings include such things like the material used. For instance products like steel-reinforced concrete (refer to diagram 3-1), steel framing, and properly braced wood frames for houses are a few examples of how buildings are being retrofitted and new buildings are being built towards protection from disasters. As well, the foundations of the buildings can be built on shock absorbing ^base isolators^ containing springs or alternating layers of steel plates and rubber, to counteract the effects of earthquakes. In Japan architectures have been keeping mind earthquakes while designing and building structures. Unfortunately the buildings were mainly designed to withstand a vertical force. The Japanese buildings were designed to withstand a certain acceleration force, but in January 1995, an earthquake hit the city Kobe devastating the buildings, which were thought to be safe. It just shows, ^that building design criteria are crucial to withstanding effects of earthquakes^ (Gerad Baker 12). The normal Japanese wooden houses that had heavy roofs collapsed, and also newer homes were demolished, as seen on diagram 3-2. This could have been avoided by building the houses with lighter plywood frames with crossbars that distribute force evenly rather than houses with heavy timber walls that collapse under force. As well the materials used to build the structures has a great deal to do with the survival rate of buildings. The use of reinforced concrete is thought to be a major reason why buildings stay intact. It is possible to reinforce older buildings with extra concrete simply and effectively, which has been done in California since 1989. Bridges, a totally different aspect of building, but a very similar method for creating sound structures. During the Kobe earthquake the Hanshin expressway collapsed on its side for a stretch of 600m (pictures seen on page 5). This type of roadway is built upon reinforced concrete pillars. There is steel inside the pillars to increase its ability to bend and flex with the

A Logical and Unemotional Justification of Capital Punishment :: Argumentative Persuasive Argument Essays

A Logical and Unemotional Justification of Capital Punishment Just as the Pied Piper of Hamlin was paid to destroy the rat population, the state prisons are being forced to perform a similar action with what is an overflow of vermin. Taking either a "pro" or an "anti" stance is not something to be done lightly. Most people decide which side they are to take based on purely emotional reasons. Those who support capital punishment do so based on a hatred of the crimes committed, and a fear of similar crimes happening to them. This is not the way to reach a logical decision. Others abhor violence, and feel that two wrongs, namely murder and execution, do not make a right. (although in science, the language of logic, two negatives do make a positive.) Morality, fear, hatred, and ignorance often play a large part in important decisions, dooming society to enforce ridiculous laws, and leaving itself susceptible to rotting from the inside, out. First and foremost, it is important to put our version of capital punishment in an accurate, historical context. Since that dawn of civilization, through the laws of Moses, and the laws of Hammurabi, what you did, was done to you. The advancement of civilization is peppered with this same prevalent idea of reciprocity. To argue against these historic beliefs is to argue against the growth and development inherent in history. If at anytime this law of reciprocation had been ignored, chaos would have been re-introduced into society, creating a premature, and quick, decadence. In comparison, our law of capital punishment is a cake-walk. We do not hack off your hand when we think you take an apple. We do not burn out your eyes when you lust after another man's wife. We do not cut your tongue out and feed it to the lions if you verbalize the name of God. We offer you a trial by your peers, in which you must be proven without a doubt to be guilty. Then, you are locked in a penitentiary, where you can easily be granted an appeal. You exist incarcerated usually for many years, until your appeals have been defeated, the proof against you has been confirmed, and your crimes against humanity are of such a heinous nature that you have condemned yourself to a painless, quick, and easy death.

Computerized Library System Essay

Chromosomal aberrations are disruptions in the normal chromosomal content of a cell and are a major cause of genetic conditions in humans, such as Down syndrome, although most aberrations have little to no effect. Some chromosome abnormalities do not cause disease in carriers, such as translocations, or chromosomal inversions, although they may lead to a higher chance of bearing a child with a chromosome disorder. Abnormal numbers of chromosomes or chromosome sets, called aneuploidy, may be lethal or may give rise to genetic disorders. Genetic counseling is offered for families that may carry a chromosome rearrangement. The gain or loss of DNA from chromosomes can lead to a variety of genetic disorders. Human examples include: * Cri du chat, which is caused by the deletion of part of the short arm of chromosome 5. â€Å"Cri du chat† means â€Å"cry of the cat† in French; the condition was so-named because affected babies make high-pitched cries that sound like those of a cat. Affected individuals have wide-set eyes, a small head and jaw, moderate to severe mental health issues, and are very short. * Down syndrome, the most common trisomy, usually caused by an extra copy of chromosome 21 (trisomy 21). Characteristics include decreased muscle tone, stockier build, asymmetrical skull, slanting eyes and mild to moderate developmental disability.[51] * Edwards syndrome, or trisomy-18, the second-most-common trisomy.[citation needed]Symptoms include motor retardation, developmental disability and numerous congenital anomalies causing serious health problems. Ninety percent of those affected die in infancy. They have characteristic clenched hands and overlapping fingers. * Isodicentric 15, also called idic(15), partial tetrasomy 15q, or inverted duplication 15 (inv dup 15). * Jacobsen syndrome, which is very rare. It is also called the terminal 11q deletion disorder.[52] Those affected have normal intelligence or mild developmental disability, with poor expressive language skills. Most have a bleeding disorder called Paris-Trousseau syndrome. * Klinefelter’s syndrome (XXY). Men with Klinefelter syndrome are usually sterile, and tend to be taller and have longer arms and legs than their peers. Boys with the syndrome are often shy and quiet, and have a higher incidence of speech delay and dyslexia. Without testosterone treatment, some may develop gynecomastia during puberty. * Patau Syndrome, also called D-Syndrome or trisomy-13. Symptoms are somewhat similar to those of trisomy-18, without the characteristic folded hand. * Small supernumerary marker chromosome. This means there is an extra, abnormal chromosome. Features depend on the origin of the extra genetic material. Cat-eye syndrome and isodicentric chromosome 15 syndrome (or Idic15) are both caused by a supernumerary marker chromosome, as is Pallister-Killian syndrome. * Triple-X syndrome (XXX). XXX girls tend to be tall and thin and have a higher incidence of dyslexia. * Turner syndrome (X instead of XX or XY). In Turner syndrome, female sexual characteristics are present but underdeveloped. Females with Turner syndrome often have a short stature, low hairline, abnormal eye features and bone development and a â€Å"caved-in† appearance to the chest. * XYY syndrome. XYY boys are usually taller than their siblings. Like XXY boys and XXX girls, they are more likely to have learning difficulties. * Wolf-Hirschhorn syndrome, which is caused by partial deletion of the short arm of chromosome 4. It is characterized by severe growth retardation and severe to profound mental health issues. Cri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p minus syndrome or Lejeune’s syndrome, is a rare genetic disorder due to a missing part ofchromosome 5. Its name is a French term (cat-cry or call of the cat) referring to the characteristic cat-like cry of affected children. It was first described by Jà ©rà ´me Lejeune in 1963.[1] The condition affects an estimated 1 in 50,000 live births, strikes all ethnicities, and is more common in females by a 4:3 ratio. Signs and symptoms The syndrome gets its name from the characteristic cry of affected infants, which is similar to that of a meowing kitten, due to problems with the larynx and nervous system. About 1/3 of children lose the cry by age 2. Other symptoms of cri du chat syndrome may include: * feeding problems because of difficulty swallowing and sucking. * low birth weight and poor growth. * severe cognitive, speech, and motor delays. * behavioral problems such as hyperactivity, aggression, tantrums, and repetitive movements. * unusual facial features which may change over time. * excessive drooling. * constipation. ————————————————- Genetics Cri du chat syndrome is due to a partial deletion of the short arm of chromosome number 5, also called â€Å"5p monosomy†. Approximately 90% of cases results from a sporadic, or randomly-occurring, de novo deletion. The remaining 10-15% are due to unequal segregation of a parental balanced translocation where the 5p monosomy is often accompanied by a trisomic portion of the genome. These individuals may have more severe disease than those with isolated monosomy of 5p. Most cases involve total loss of the most distant 20-10% of the material on the short arm. Fewer than 10% of cases have other rare cytogenetic aberrations (e.g., interstitial deletions, mosaicisms, rings and de novo translocations). The deleted chromosome 5 is paternal in origin in about 80% of de novo cases. Loss of a small region in band 5p15.2 (cri du chat critical region) correlates with all the clinical features of the syndrome with the exception of the catlike cry, which maps to band 5p15.3 (catlike critical region). The results suggest that 2 noncontiguous critical regions contain genes involved in this condition’s etiology. Two genes in these regions, Semaphorine F (SEMA5A) and delta catenin(CTNND2), are potentially involved in cerebral development. The deletion of the telomerase reverse transcriptase (hTERT) gene localized in 5p15.33 may contribute to the phenotypic changes in cri du chat syndrome as well. people with cri du chat syndrome Down syndrome (DS) or Down’s syndrome, also known as trisomy 21, is achromosomal condition caused by the presence of all or part of a third copy ofchromosome 21.[1] Down syndrome is the most common chromosome abnormality in humans.[2] It is typically associated with a delay in cognitive ability (mental retardation, or MR) and physical growth, and a particular set of facial characteristics.[1] The average IQ of young adults with Down syndrome is around 50, compared to children without the condition with an IQ of 100.[1][3] (MR has historically been defined as an IQ below 70.) A large proportion of individuals with Down syndrome have a severe degree of intellectual disability. Genetics Karyotype for trisomy Down syndrome. Notice the three copies of chromosome 21 Down syndrome disorders are based on having too many copies of the genes located on chromosome 21. In general, this leads to an overexpression of the genes.[54] Understanding the genes involved may help to target medical treatment to individuals with Down syndrome. It is estimated that chromosome 21 contains 200 to 250 genes.[55] Recent research has identified a region of the chromosome that contains the main genes responsible for the pathogenesis of Down syndrome.[56] The extra chromosomal material can come about in several distinct ways. A typical human karyotype is designated as 46,XX or 46,XY, indicating 46 chromosomes with an XX arrangement typical of females and 46 chromosomes with an XY arrangement typical of males.[57] In 1–2% of the observed Down syndromes.[58] some of the cells in the body are normal and other cells have trisomy 21, this is called mosaic Down syndrome (46,XX/47,XX,+21).[59] [60] Trisomy 21 Trisomy 21 (47,XX,+21) is caused by a meiotic nondisjunction event. With nondisjunction, agamete (i.e., a sperm or egg cell) is produced with an extra copy of chromosome 21; the gamete thus has 24 chromosomes. When combined with a normal gamete from the other parent, the embryo now has 47 chromosomes, with three copies of chromosome 21. Trisomy 21 is the cause of approximately 95% of observed Down syndromes, with 88% coming from nondisjunction in the maternal gamete and 8% coming from nondisjunction in the paternal gamete.[58] The actual Down syndrome â€Å"critical region† encompasses chromosome bands 21q22.1-q22.3.[61] Edwards syndrome (also known as Trisomy 18 (T18) or Trisomy E) is a genetic disordercaused by the presence of all or part of an extra 18th chromosome. It is named after John H. Edwards, who first described the syndrome in 1960.[1] It is the second most commonautosomal trisomy, after Down syndrome, that carries to term. Edwards syndrome occurs in around one in 6,000 live births and around 80 percent of those affected are female.[2] The majority of fetuses with the syndrome die before birth.[2]The incidence increases as the mother’s age increases. The syndrome has a very low rate of survival, resulting from heart abnormalities, kidney malformations, and other internal organ disorders. Signs and symptoms Children born with Edwards syndrome may have some or all of the following characteristics: kidney malformations, structural heart defects at birth (i.e., ventricular septal defect, atrial septal defect, patent ductus arteriosus), intestines protruding outside the body (omphalocele), esophageal atresia, mental retardation, developmental delays, growth deficiency, feeding difficulties, breathing difficulties, and arthrogryposis (a muscle disorder that causes multiple joint contractures at birth).[3][4] Some physical malformations associated with Edwards syndrome include small head (microcephaly) accompanied by a prominent back portion of the head (occiput); low-set, malformed ears; abnormally small jaw (micrognathia); cleft lip/cleft palate; upturned nose; narrow eyelid folds (palpebral fissures); widely spaced eyes (ocular hypertelorism); drooping of the upper eyelids (ptosis); a short breast bone; clenched hands; choroid plexus cysts; underdeveloped thumbs and or nails,absent radius, webbing of the second and third toes; clubfoot or Rocker bottom feet; and in males, undescended testicles. of choroid plexus cysts, which are pockets of fluid on the brain. These are not problematic in themselves, but their presence may be a marker for trisomy Genetics Edwards syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on the 18th chromosome, either in whole (trisomy 18) or in part (such as due to translocations). The additional chromosome usually occurs beforeconception. The effects of the extra copy vary greatly, depending on the extent of the extra copy, genetic history, and chance. Edwards syndrome occurs in all human populations but is more prevalent in female offspring.[7] A healthy egg and/or sperm cell contains individual chromosomes, each of which contributes to the 23 pairs of chromosomes needed to form a normal cell with a typical human karyotype of 46 chromosomes. Numerical errors can arise at either of the two meiotic divisions and cause the failure of a chromosome to segregate into the daughter cells (nondisjunction). This results in an extra chromosome, making the haploid number 24 rather than 23. Fertilization of eggs or insemination by sperm that contain an extra chromosome results in trisomy, or three copies of a chromosome rather than two.[8] Trisomy 18 (47,XX,+18) is caused by a meiotic nondisjunction event. With nondisjunction, a gamete (i.e., a sperm or egg cell) is produced with an extra copy of chromosome 18; the gamete thus has 24 chromosomes. When combined with a normal gamete from the other parent, the embryo has 47 chromosomes, with three copies of chromosome 18. with edwards syndrome Isodicentric 15, also called idic(15), partial tetrasomy 15q, or inverted duplication 15 (inv dup 15), is a chromosome abnormalityin which a child is born with extra genetic material from chromosome 15. People with idic(15) are typically born with 47 chromosomes in their body cells, instead of the normal 46. The extra chromosome is made up of a piece of chromosome 15 that has been duplicated end-to-end like a mirror image. It is the presence of this extra genetic material that is thought to account for the symptoms seen in some people with idic(15). Individuals with idic(15) have a total of four copies of this chromosome 15 region instead of the usual two copies (1 copy each on the maternal and paternal chromosomes). The extra chromosome is rarely found in mosaic state, i.e. some of the cells carry the marker chromosome. However, mostly because of the marker’s instability and tendency to be lost during cell division (mitosis), some cells are completely normal with 46 chromosomes. Occasionally, cells may have more than one idic(15), resulting in 48 or 49 chromosomes in all or some of their cells. A similar clinical picture albeit to a milder degree could be expected in individuals that have the extra chromosome 15 material as an interstitial duplication; not as a marker chromosome; thus having 46 chromosomes.[1][2] Signs and symptoms Individuals with idic(15) have delays in language development and motor skills such as walking or sitting up. Other traits may include low muscle tone (hypotonia), seizures, short stature, and mental retardation. Distinctive facial features associated with idic(15) may include epicanthal folds (skin folds at the inner corners of the eyes), a flattened nasal bridge, button nose, and a high arched palate (roof of the mouth). Some individuals with idic(15) also have features of autism, such as problems with communication, social interactions, and repetitive and stereotyped behaviors (e.g., lining up toys, playing with a toy in the same manner over and over again, hand flapping, rocking back and forth). These are some mild features but with a severe person there may be more such as inability to talk at all. Genetics Generally, idic(15) is not inherited; it is said to appear de novo; in one member of the family, by chance. In most cases, the abnormal chromosome is generated in the mother’s germ cells; oocytes. This finding is due to ascertainment bias; i.e. cases with maternally derived idic(15) usually have clinical findings and attract attention but those with paternally derived idic(15) usually do not. Thus, established cases are usually patients with maternally inherited idic (15).[4] . The smallest markers appear to be harmless and they may go undetected. However, if they are large enough to contain a number of important genes, they may result in â€Å"idic(15) syndrome† which is characterized by mental retardation, autism and other neurological symptoms.[5] One of the regions responsible for the symptoms of idic(15)syndrome is the critical PWS/AS-region named after the Prader-Willi and/or Angelman syndromes. Jacobsen Syndrome, also known as 11q deletion disorder, is a rare congenital disorder resulting from deletion of a terminal region of chromosome 11 that includes band 11q24.1. It can cause intellectual disabilities, a distinctive facial appearance, and a variety of physical problems including heart defects and a bleeding disorder. The syndrome was first identified by Danish physician Petra Jacobsen,[1] and is believed to occur in approximately 1 out of every 100,000 births. Possible characteristics * Heart defects * Mild to severe intellectual disabilities * Low-platelets (thrombocytopenia) * Facial/skeletal (dysplasia) * Wide-set eyes caused by trigonocephaly * Folding of the skin near the eye (epicanthus) * Short, upturned nose (anteverted nostrils) * Thin lips that curve inward * Displaced receding chin (retrognathia) * Low-set, misshapen ears * Permanent upward curvature of the pinkie and ring fingers (camptodactyly) * Large great toes/Hammer toes Klinefelter’s syndrome, 47, XXY, or XXY syndrome is a condition in which a human has an extra X chromosome. While females have an XX chromosomal makeup, and males an XY, affected individuals have at least two X chromosomes and at least one Y chromosome.[1] Because of the extra chromosome, individuals with the condition are usually referred to as â€Å"XXY Males†, or â€Å"47, XXY Males†.[2] This chromosome constitution (karyotype) exists in roughly between 1:500 to 1:1000 live male births[3][4] but many of these people may not show symptoms. The physical traits of the syndrome become more apparent after the onset of puberty, if at all.[5] In humans, 47,XXY is the most common sex chromosome aneuploidy in males[6] and the second most common condition caused by the presence of extra chromosomes. Other mammals also have the XXY syndrome, including mice. Patau syndrome, also known as trisomy 13 and trisomy D, is a chromosomalabnormality, a syndrome in which a patient has an additional chromosome 13 due to anondisjunction of chromosomes during meiosis. Some are caused by Robertsonian translocations, while others are caused by mosaic Patau syndrome. The extra chromosome 13 disrupts the normal course of development, causing heart and kidney defects, amongst other features characteristic of Patau syndrome.[vague] Like allnondisjunction conditions (such as Down syndrome and Edwards syndrome), the risk of this syndrome in the offspring increases with maternal age at pregnancy, with about 31 years being the average.[1] Patau syndrome affects somewhere between 1 in 10,000 and 1 in 21,700 live births.