...What is Edwards syndrome Edwards syndrome also known as trisomy 18 is a condition in which you have 3 chromosome 18 instead of your normal 2. A chromosome are thread like structures in the cells that hold genes. The genes carry everything need to create the baby's body. Many things go wrong when you have this condition, a few being miscarriage, low birth weight, small heads, under formed jaw, and malformed ears. Sadly this condition cannot be prevented nor is it inherited it effects random babies, we will be taking a look at all of these things. How do you get Edwards syndrome Edwards syndrome is started in the womb of the mother when the spem and egg meets and form the embryo, their chromosome combine. The baby gets 23 chromosomes from their...
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...Edwards Syndrome: Trisomy Eighteen Congenital abnormalities constitute for many genetic defects during conception. During the process of Meiosis, cell division of a diploid cell occurs, which results in a four haploid progeny cells. These cells have half of the genetic information from the original parental diploid cell (Pearson School 2011). Twenty-three chromosomes are present in each cell. Once the sperm and the egg meet, Meiosis begins. This process of splitting cells and DNA replication can result in genetic information to be transferred, deleted, or relocated on accident. Twenty-three chromosomes from the father and twenty-three chromosomes from the mother combined, resulting in forty-six chromosomes in each cell. A congenital abnormality that results from an extra copy of chromosome eighteen is called Edwards’ disease or Trisomy eighteen. During Meiosis, chromosome eighteen is duplicated three times, causing developmental issues that are life threatening. This genetic defect in most cases causes the fetus to be stillborn at birth (Trisomy 18 foundation, 2010). According to Thomas Weiss, “Edwards' syndrome is associated with a broad spectrum of abnormalities which consist of greater than one-hundred and thirty discrete defects involving the brain, heart, craniofacial structure, kidneys and stomach.” The purpose of this paper is to examine what Edward’s syndrome is: diagnosing, symptoms, treatment/management and prognosis. Diagnosing Diagnosing a Trisomy Eighteen infant...
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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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...Prader-Willi Syndrome is a genetic disorder that affects chromosome number fifteen. Some of the common signs of this syndrome are obesity, eyes with narrower shape, small hands, feet and stature. Often the muscle tone is decreased and as a consequence motor development is delayed. Individuals affected usually have mild learning disabilities and only a small portion have average or above average IQs. Their long term memory is stronger and efficient than their short term memory. Most students with Prader-Willi Syndrome have difficulty working with numbers and calculations. They usually perform better when working with reading, writing, drawing, and when working with technology. Behavior issues are directly associated with the syndrome as well...
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...Cat eye syndrome is a genetic condition , a way to describe it is to say that it is an abnormality in chromosome 22. It can lead to a coloboma of the iris witch is how it got its name . The eyes look cat-like but work the same as a normal human . Cat eye syndrome or “Schmid Fraccaro syndrome” is a rare condition caused by the short arm and a small section of the long arm of human chromosome 22 being present three (trisomic) or four times (tetrasomic) instead of the usual two times. The name “cat eye syndrome” is derived from a distinctive eye (ocular) abnormality that is present in a little over half affected individuals. Most cases of eye cat syndrome are not hereditary , the condition generally occurs even during the formation of...
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...leaves not much time for learning because the toileting, hygiene, and eating do take a big part of the day. The teachers usually have a full time assistant in the classroom or two depending on the need in the classroom; this helps the Special Education teacher complete tasks in the classroom. The teacher can work on a student one on one and the assistant can help with the other students needs. (Severe Intellectual Disabilities and Multiple Diablites, 2007) Some of the intellectual disabilities that teachers may encounter I have found are ADHD (Attention Deficit hyperactivity Disorder), Angel man syndrome, Aspersers Syndrome, Autism, Cri Du Char, Down Syndrome, Dysphasia, Dyspraxia, Epilepsy, Fragile X, Klinefelter Syndrome, Pervasive Developmental Disorder, Prader-willi Syndrome, Rett Syndrome, Trismoy, Soto’s Syndrome, Tourette Syndrome, Tuberous Sclerosis, and Williams Syndrome. (Activ, 2001) References Activ (2001) Types of Intellectual Disabilities. Retrieved on July 13, 2001 from http://www.activ.asn.au/3/3017/8/types_of_intellectual_disability.pm Severe Intellectual Disabilities and Multiple Disabilities. Pat Mimms. Retrieved from Special Education for Today’s Teachers: An Introduction, by Michael S. Rosenberg, D avid L. Westling, and James M cLeskey....
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...Doctors have been left baffled after a Chinese pensioner woke from a two-week coma speaking perfect English - but not a word of her native language. Liu Jieyu, 94, had been unconscious for a fortnight after suffering a stroke, which doctors had feared she may not recover from. When she finally awoke, the retired teacher asked in perfect English: 'Where am I? What is happening?' Surprised doctors were left even more confused when it became clear Ms Jieyu - who used to teach English - had lost all ability to speak her native Chinese. An English-speaking doctor was brought in to talk to the pensioner, who confirmed she was speaking the language perfectly - although a little slowly. Her shocked family say while Ms Jieyu had taught English previously, she had not spoken the language in more than 30 years. They say said she had stopped using English after retiring to live with her family on the outskirts of the city of Changsha, in southern China's Hunan province. RELATED ARTICLES Medic Tao Hou, 45, said: 'I can't ever remember having a case like this before but we anticipate with proper rehabilitation and rest she should regain the ability to speak Chinese. 'We assume that the area dealing with her ability to speak Chinese has been damaged, but brain cells to have an ability to repair themselves to a certain extent we would hope to see at least some improvement.' Ms Jieyu was admitted to hospital after suffering a type of stroke called a cerebral infarction, where the blood...
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...To the parents of Madison Rigby, Congratulations on your new member of your family. Your baby has recently been diagnosed with Velocardiofacial syndrome. It is also commonly called DiGeorge syndrome or Deletion syndrome. It is caused by a deletion of chromosome 22q11 or chromosome 22. It happens when a small piece of genetic material is missing. Because there is a copy of this chromosome from each parent something could've gone wrong in the sperm cell or egg cell. It is completely random. Some symptoms of this disease are: Heart defects, cleft palate or lip, breathing problems, delayed speech and growth, and learning difficulty. This can be passed down from parent to child so if your child were to reproduce there is a 50-50 chance that it...
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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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...Have you ever wanted to be in someone else's shoes for a day. Well, August Pullman wants to be a different person every day, He wants to be a person who no one stares at and who doesn't have to hide their face everywhere they go. August, or Auggie has many medical issues. It was a dental surgery where his mouth was sealed shut, or a nose problem where surgeons had to reconstruct his nose. As a result, his ears are closer to his neck than other people, his face has many indents, and he has to wear a hearing aid. Another issue is that he can only chew through his front teeth. He has other issues than his medical issues. August had never been to school until fifth grade. Not because of how he looks, but because there were too many medical issues....
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... There are different types of trauma acute which is a single event that lasts for a limited time, chronic which is multiple events over a longer period of time and complex which begins at a young age cause by adult’s negligence. In Hebrews chapter 11 and 1 says now faith is the substance of things hope for and evidence of things not seen. In some cultures they believe that faith is their medicine to help them alleviate some of their traumatic events. Developmental delay refers to a child not achieving developmental milestone at the normal age range. There are five developmental delays, gross motor, fine motor, language, cognitive and social. Genetic plays a factors in some developmental delays such as Down syndrome, Fragile X syndrome, rett syndrome, and muscular dystrophy. These multiple delays influence physical, and social developments. An example of a delay could be if the child was born prematurely, or if the mother had an infections like chlamydia and passed it to the baby during birth. If a mother experience any trauma during pregnancy or during birth like being exposed to drugs and alcohol. Unhealthy home environments where children are exposed to unsanitary conditions, poverty or malnutrition are observable factors that can lead to growth delays. Feldman (2014) Reference: (n.d.). Retrieved April 12, 2015, from http://study.com/academy/lesson/what-is-a-developmental-delay-in-children-definition-causes-symptoms.html Feldman, R. S. (2014). Development...
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...what causes Prader-Willi Syndrome (PWS) as well as considering the symptoms and treatments. PWS is a genetic disorder affecting chromosome 15 within three mutations. It could result from a microdeletion or disruption of genes of the paternal chromosome 15, maternal uniparental disomy of chromosome 15, or a mutation that inactivates chromosome 15 on the paternal copy. Based on these mutations, the most common symptoms of this syndrome are behavioral problems, intellectual disability, and short stature. The majority of the treatments for this syndrome are programs and methods interventions. Prader-Willi syndrome (PWS) is a complex genetic disorder that is...
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...Description: Prader-Willi syndrome is caused by spontaneous genetic problems in chromosome 15 which is evident in the early development of a fetus. In other words, there is a deletion, or a loss of genes from that chromosome. This genetic disease is capable of affecting any number of physical, mental, and behavioral problems in the human body. http://www.medicalnewstoday.com/articles/182287.php Starting at infancy, this disease portrays weak muscle tone (hypotonia), poor growth, troubles feeding, and delayed development. The most common feature of Prader-Willi is the feeling of constant hunger. This symptom is not present at birth, but usually apparent at around the age of two. This constant feeling of hunger and need to eat is from the person never getting a complete satisfaction of food, or never feeling full and can lead to many chronic weight related conditions. https://ghr.nlm.nih.gov/condition/prader-willi-syndrome...
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...Trisomy: Humans have 23 pair of chromosomes or in total 46 chromosomes. 22 pairs are autosomes and 1 pair is sex chromosome. The autosomes carry information regarding the whole body except for sex of that human. The sex is determined with the sex chromosome. If the sex chromosome contains two XX then the sex is said to be female, and if it is XY it is male. A trisomy is a chromosomal abnormality in which the total number of chromosomes exceeds, and the person has 47 chromosomes instead of 46. There are three major types of trisomy, depending upon the addition of chromosomes. These are Patau Syndrome, Edward Syndrome and Down’s syndrome. Children born with trisomy have multiple birth defects, which include poor intellect and delayed milestone....
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...What is Patau Syndrome? Patau syndrome, also known as 'Trisomy 13,' is a form of genetic disorder in which all or a portion of the person's chromosome thirteen appears three times instead of twice in the cells of their body. In some people who are affected by the syndrome, only a percentage of the cells may contain the extra thirteenth chromosome, referred to as 'mosaicism'. The extra material interferes with the person's regular process of development, which leads to severe intellectual disability and physical abnormalities in a number of parts of their body. Patau syndrome is considered as the 3rd commonest autosomal trisomy. This along with Down syndrome (T21) and Edward syndrome (T18) which are the only three trisomies to be compatible with extra-uterine life. Patau syndrome occurs in approximately one out of every ten-thousand to sixteen-thousand infants. Most conditions of Patau Syndrome cannot be inherited. During the formation of the sperm or egg, a problem with cell division can cause an extra chromosome 13 in the cells. This is not the fault of the parent, but rather a random occurrence. Another type of Patau Syndrome can be inherited. Translocation trisomy 13 can happen when an unaffected parent carries a rearrangement of genetic material from chromosome 13 and another chromosome and passes this material on to the child.Due to the presence of a number of life-threatening medical issues, many babies with Patau syndrome die in the first few days or weeks...
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