...Liz Group Project Makeup 29 November 2012 Cri Du Chat Cri Du Chat Syndrome is a rare genetic disorder caused by a deletion of genetic material in the small arm (the p arm) of chromosome 5. In most cases, this deletion occurs when the sperm or egg cell is developing. It is such a rare deletion that it is very unlikely for it to happen again if the parents were to have another child. The parent does not have to have the disorder in order for the child to get it, although it is possible for a child to inherit this broken chromosome from a parent with Cri Du Chat. The name is French for “cry of the cat,” in reference to the distinctive cry of children with this disorder. The cry comes from abnormal larynx development which is one of the many symptoms associated with this disease. Babies with this disorder are usually born with more problems such as a low birth weight and weak muscle tone. Individuals with Cri Du Chat have very distinctive facial features including a small head, an unusually round face, a small chin, widely set eyes, folds of skin over their eyes, and a small bridge of the nose. In rare cases, children may have heart defects, muscular or skeletal problems, and hearing or sight problems. As they grow, people may have problems with speech and walking. Behavior problems like hyperactivity, aggression, and mental retardation are common. Life expectancy is normal. There is no specific treatment for these problems. An ongoing support team made up of parents...
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...My report is on Cri Du Chat Syndrome. I believe that this type of disease will be very interesting to learn about. This type of syndrome is French for “Cry of the Cat” Children with this condition often have a high pitched cry that sounds like a cat. Cri du Chat Syndrome can affect a male or female. Cri du Chat is one of the most common syndromes caused by a chromosomal deletion. It affects between 1 in 20,000 and 1 in 50,000 babies. Approximately 50 to 60 children are born with cri du chat syndrome in the United States each year. This type of syndrome can be found in both races. An abnormal larynx causes the unusual cat-like cry made by infants this is an sign that the child may have this syndrome. In addition to the catlike cry, individuals...
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...Mrs. Sally Googlesnorf Liked Cats Until She Gave Birth To One Mr. and Mrs Googlesnorf gave birth to their first son to which they named Tem. Tem Googlesnorf. Tem had a problem though, a fairly rare problem. He had a disease known as Cri-Du-Chat syndrome. The Syndrome Cri-Du-Chat is French for “Cry of Cat”. It is also know as 5pMinus Disease. This is a disease found in the chromosomes of an organism when a piece of chromosome five is missing. Does Everyone Have It!? This disease is found one in every twenty to fifty thousand newborns. It is not sex linked. Are We All Going To Die? Cri-Du-Chat syndrome has about ten percent of cases that die within the first year of life, however the majority have good life expectancy. People with...
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...Cri du chat, also known as “Cat’s Cry” syndrome or 5p- (5 p minus) syndrome occurs when there is a deletion in chromosome 5 (Genetics Home Reference). According to the Genetics Home Reference website, most cases of Cri du Chat are not inherited. The deletion occurs randomly during production of reproductive cells or in early development. People with Cri du Chat most often have no familial history of the disease. Only about ten percent of the cases of Cri du Chat are inherited from unaffected parents. Most of the time in this situation, the parent’s chromosome is rearranged. The material is not gained or lost, but is located on different parts of the chromosome. So, when the material is moved to create gametes or chromosomes in a developing...
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...Cri du Chat Cri du chat syndrome is a rare genetic disorder which approximately affects 1 in 20,000 to 50,000 live births. The disease does not depend on ethnic backgrounds, but is most common in the case of women. The disorder gets its name from the typical cry of babies born with this syndrome. The baby sounds like a kitten, because of problems with the nervous system and larynx. The good news is that about 1/3 of kids recover by the age of 2. Negative aspects of this disease may be: * Feeding problems, because they can't suck and swallow well * Low weight at birth and poor evolution * Motor, cognitive, and speech delays * Behavioral problems such as aggression, hyperactivity, and repetitive movements * Uncommon facial traits that can change in time * What is Cri-du-Chat syndrome? The name of this syndrome is French for "cry of the cat," referring to the distinctive cry of children with this disorder. The cry is caused by abnormal larynx development, one of the many symptoms associated with this disorder. It usually becomes less noticeable as the baby gets older, making it difficult for doctors to diagnose cri-du-chat after age two. Cri-du-chat is caused by a deletion (the length of which may vary) on the short arm of chromosome 5. Multiple genes are missing as a result of this deletion, and each may contribute to the symptoms of the disorder. One of the deleted genes known to be involved is TERT (telomerase reverse transcriptase). This gene is...
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...David Ramsay Biology 10/ English 10 2/13/14 Cri Du Chat Cri Du Chat or 5p- is a genetic disorder which is also known as cat’s cry. When the baby is born it has a really high pitch cry when the baby is born. The history of Cri Du Chat was founded in 1963 by a genetic scientist named Jerome Lejeuna. This disorder happens when the 5th chromosome is deleted from the chromosome. This is where the chromosomal is deleted and is gives a physical appearance of downward slant on the eyes, low birth weight, slow growth, and low set of ears, small head size, low birth weight, and weak muscle tone in infancy. Affected individuals also have distinctive facial features, including widely set eyes, low-set ears, a small jaw, and a rounded face. Some children with Cri Du Chat syndrome are born with a heart defect; when the kids are born and start to get older have verbal trouble. But kids are happy and socially active when kids and adults. There are also mental aspects to cri du chat, slow development of motor skills intellectual disability, and a high pitch cat’s cry. There is no treatment for Cri Du Chat, the only thing that a person can do to help it is go to physical therapy for educational intervention and for the therapy is only physical and mental. This paper will discuss the diagnosis, causes, symptoms, and treatments of cri du chat and the lifestyle have diagnosed for Cri Du Chat. Cri Du Chat is not an inherited gene, but doctors believe that the disorder is caused by the egg or...
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...I responded with ‘I don’t know, honey I’ve never owned a cat before!’” Kathy McClelland, mother of two, explains. Kelly’s son, Nathan, has Cri-du-chat syndrome, a rare genetic disorder that occurs when the short P-arm of chromosome 5 is deleted for seemingly no reason. It causes intellectual disability and delayed development, making it almost impossible for patients to live and function on their own. Infants can be diagnosed with Cri-du-chat almost instantly at birth- they have a distinct cry that is similar to that of a cat. They also are usually born with a low birth weight, small head or jaw, wide-set eyes, and low-set or abnormally-shaped ears. Over time, they will experience cognitive, gross, and fine motor delays, difficulty with speech and language, constipation, and sleeplessness. Since Cri-du-chat...
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...Angelman syndrome Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe intellectual and developmental disability, sleep disturbance, seizures, jerky movements (especially hand-flapping), frequent laughter or smiling, and usually a happy demeanor. AS is a classic example of genomic imprinting in that it is caused by deletion or inactivation of genes on the maternally inherited chromosome 15 while the paternal copy, which may be of normal sequence, is imprinted and therefore silenced. The sister syndrome, Prader–Willi syndrome, is caused by a similar loss of paternally inherited genes and maternal imprinting. AS is named after a British pediatrician, Harry Angelman, who first described the syndrome in 1965.[1] An older, alternative term for AS, "happy puppet syndrome", is generally considered pejorative and stigmatizing so it is no longer the accepted term. People with AS are sometimes referred to as "angels", both because of the syndrome's name and because of their youthful, happy appearance Charcot–Marie–Tooth disease Charcot–Marie–Tooth disease (CMT), also known as Charcot–Marie–Tooth neuropathy and peroneal muscular atrophy is one of the hereditary motor and sensory neuropathies, a group of varied inherited disorders of theperipheral nervous system characterised by progressive loss of muscle tissue and touch sensation across various parts of the body. Currently incurable, this disease is the most commonly inherited neurological disorder...
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...1. List and describe the steps of mitosis. A. Interphase. At this stage the cell is undergoing metabolic events and activities in preparations for cell division. The chromosomes are not visible at this stage. However, a dark stop (nucleolus) may be seen. B. Prophase. The chromosome starts condensing. At this stage the chromosomes become visible. The nucleolus disappears and the centrioles begin moving to opposite ends. From the centromeres, fibers start to extend. Mitotic spindle form. C. Prometaphase. Nuclear membrane disappears. Proteins get attached to the centromeres to create kinetochores. Microtubules attach at the kinetochores. The chromosomes start moving. D. Metaphase. The chromosomes arrange themselves at the equator of the cell. This will ensure that the chromosomes will separate and each nucleus will have one copy of each chromosome. E. Anaphase. The pair chromosomes separate and move in the opposite directions.The separation is due to movement of kinetochore along the spindle fiber. Physical interactions of the polar microtubules also contribute in the movement of the chromosomes. F. Telophase. Now the chromatids are located at the poles. Membranes form around the daughter nuclei. The chromosomes are no longer visible under the light microscope. The spindle fibers disperse, and cell partitioning starts. G. Cytokinesis. Fiber rings around the center of the cell contract causing the cell to divide into two daughter cells. Each daughter cell has one...
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...Human Karyotypes Purpose To examine and prepare human karyotype charts Background The term karyotype refers to a photograph of the chromosomes of a cell at a time when each still consists of two ‘sister’ chromatids attached to each other at their centromeres. To prepare a karyotype chart, scissors are used to cut out each chromosome from an enlarged photo of the karyotype. Chromosome pairs are identified, and then arranged in chart form (figure 1). Numbers or letters have been assigned to specific chromosome pairs. Analysis of karyotype charts is helpful in the study of chromosome abnormalities. Figure 1: A Human Karyotype (left) and Karyotype Chart (right) Special staining techniques can reveal light and dark regions (bands) on the chromosomes. By matching the bands, it is now quite easy to identify specific chromosomes and prepare a karyotype chart (figure 2). Figure 2: A Human Karyotype Chart Using Chromosomes With Simulated Banding Materials * Sample karyotypes | * Scissors | * Unlined paper | * Transparent tape/glue | Procedure Part 1: The structure of a human karyotype chart 1. Carefully examine the human karyotype illustrated in figure 2 (previous page) a) How many rows of chromosomes are in a karyotype chart 4 rows b) Record the total number of chromosomes in the individual. 46 Chromosomes c) How many chromosome pairs are shown? There are 23 pairs shown; 22 somatic and 1 sex chromosome pair. ...
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...Chapter 15 Overview: Locating Genes Along Chromosomes * Mendel’s “hereditary factors” were genes * Today we can show that genes are located on chromosomes * The location of a particular gene can be seen by tagging isolated chromosomes with a fluorescent dye that highlights the gene Mendelian inheritance has its physical basis in the behavior of chromosomes * Mitosis and meiosis were first described in the late 1800s * The chromosome theory of inheritance states: * Mendelian genes have specific loci (positions) on chromosomes * Chromosomes undergo segregation and independent assortment * The behavior of chromosomes during meiosis can account for Mendel’s laws of segregation and independent assortment * Morgan’s Experimental Evidence: Scientific Inquiry * The first solid evidence associating a specific gene with a specific chromosome came from Thomas Hunt Morgan, an embryologist * Morgan’s experiments with fruit flies provided convincing evidence that chromosomes are the location of Mendel’s heritable factors Morgan’s Choice of Experimental Organism * Several characteristics make fruit flies a convenient organism for genetic studies * They produce many offspring * A generation can be bred every two weeks * They have only four pairs of chromosomes * Morgan noted wild type, or normal, phenotypes that were common in the fly populations * Traits alternative to the wild type are called mutant phenotypes Correlating...
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...BY 101 Study Guide Chapter 9 – Cell Division Cell division is an elegant process that enables organisms to grow and reproduce. Through a sequence of steps, the replicated genetic material (chromosomes) in a parent cell is equally distributed to two daughter cells. While there are some subtle differences, mitosis is remarkably similar across organisms. Before a dividing cell enters mitosis, it undergoes a period of growth called interphase. Interphase is the "holding" stage or the stage between two successive cell divisions. In this stage, the cell replicates its genetic material and organelles in preparation for division. The cell cycle, or cell-division cycle, is the series of events that take place in a cell leading to its division and duplication (replication). The cell cycle consists of four distinct phases: G1 phase, S phase (synthesis), G2 phase (collectively known as interphase) and M phase (mitosis). M phase is itself composed of two tightly coupled processes: mitosis, in which the cell's chromosomes are divided between the two daughter cells, and cytokinesis, in which the cell's cytoplasm divides forming distinct cells. Activation of each phase is dependent on the proper progression and completion of the previous one. Cells that have temporarily or reversibly stopped dividing are said to have entered a state of quiescence called G0 phase. Mitosis is composed of several stages: * Prophase * Metaphase * Anaphase * Telophase Prophase ...
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...Kosik, Donahue, Israely, Liu, and Ochiishi, 2005a; Restituito, Khatri, Ninan, Mathews, Liu, Weinberg, and Ziff, 2011; Silverman, Restituito, Lu, Lee-Edwards, Khatri, and Ziff, 2007). Mice deficient in NPRAP exhibit abnormal synaptic plasticity, severe learning and memory problems, robust deficits in the Rotating Rod test, as well as impaired Fear Conditioning (Israely et al., 2004). AMPAR-associated Proteins in Behavior Regulation, Disorders, and Disease As described, the trafficking, scaffolding, and function of AMPARs are important components of experience-dependent behavioral formation. Additionally, improper AMPAR function, trafficking, and/or scaffolding have been shown to contribute to a multitude of disorders and syndromes: Cri-du-Chat syndrome, Alzheimer’s disease, drug addiction, obsessive compulsive disorder, anxiety disorders, overeating, depression, and motor disorders (Goffer, Xu, Eberle, D'Amour, Lee, Tukey, Froemke, Ziff, and Wang, 2013; Hideyama and Kwak, 2011; Matter, Pribadi, Liu, and Trachtenberg, 2009). The wide array of problems associated with dysfunctional trafficking, scaffolding, and function of AMPARs makes the study of these receptors important to identify possible therapeutic targets. Understanding the mechanisms by which AMPARs function and traffic may aid in the amelioration of some of the symptoms that result from the associated disorders. The following work investigates the behavior of mouse lines in which genes that are involved in the...
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...Running head: LEARNING DISABILITIES Learning Disabilities Yadira M. Cesena Grand Canyon University SPE 526- Educating Learners with Diverse Needs April 19, 2011 Abstract This paper was written with the intent to define, describe the characteristics and causes of learning disabilities, communication disorders and giftedness. The author discusses the curriculum that is necessary for the students with learning disabilities, communication disorders and giftedness. The author summarizes in a short concluding paragraph that brings the topics together. Learning Disabilities There is so much known about learning disabilities, but yet so little. As a teacher it is important to understand the various types of learning disabilities, communication disorders and giftedness. In reality what does that all mean? Teachers should be well informed about the definitions of these as well as what characteristics to look for and what causes them. It is estimated that approximately six to ten percent of school-aged children are learning disabled. Many times students are mistakenly diagnosed having a learning disability. That is the reason why it is important for teachers to understand the difference of having different learning styles or needs than having a disability. Teachers need to know what to include in the curriculum, or how to make accommodations, or modifications to cater to the needs of the individual student. The ultimate goal is to understand these students and to give...
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...Eugenics: Health Benefits 1 Running Head: EUGENICS: HEALTH BENEFITS AND THE FUTURE Eugenics: Health Benefits and the Future Abstract The study of eugenics is propelling the world quickly into the future. Eugenics is the study of genetically engineering enhanced humans. This genetic engineering is done through modification of certain traits on an embryonic level, to create a heritable trait. Once modified, these traits will be passed on to the offspring of this individual, as well as demonstrated in that particular individual. The traits that can be modified are as simple as hair color, eye color, skin color, ability to grow muscle mass, body build, etc. They can be as complex as prevention of cancer and other gene-based diseases. Gene modification to create enhanced humans is an evolutionary necessity. In the day and age where the aspects of oneself can be modified with enough money or enough time, it is only natural that society would progress to the point where they would want to modify their offspring. The prospect of eugenics (literally, "well born") is not new, it spans back to the 1800's, when Sir Francis Galton created the word to define the basis for inheritance of intellect. He theorized that through the process of uncontrolled breeding, the unintelligent were outweighing the intelligent. Galton was not too far off according to movies such as Idiocracy, where the world becomes exclusively populated by morons...
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