...Klinefelter syndrome is a genetic disorder where a male possesses an extra X chromosome on a XY background. This is caused by nondisjunction during meiosis which means that the chromosomes do not split properly. This syndrome clinically presents with tall stature, low testosterone, hypogonadism, delayed puberty and gynecomastia. It occurs in 1 out of every 1000 male births which is .1-.2% of the population. Diagnosis which is done by karyotyping is not usually done until puberty because most symptoms are mild until sexual maturity. The prognosis is good but the male may have an increased incidence of many disorders. In 1942 Dr. Harry Klinefelter and Dr. Fuller Albright were working at Massachusetts General Hospital when a patient named George Bland came into the hospital with symptoms including Gynecomastia, hypogonadism, tall stature, low testosterone, high FSH, and high LH. They had 9 other patients with the same or similar symptoms. Due to the abnormalities in hormone levels it was thought to be caused by an endocrine disorder. (Harry, K 1986) However in 1959 the XXY chromosomal abnormality was found to be the cause. The doctors then realized that the disease wasn’t endocrine but chromosomal even though it...
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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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...A genetic disorder is a disease that is caused by an abnormality in an individual’s DNA. Abnormalities can range from small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes. Most disorders are rather rare and effect one person in every several thousands or millions. Three examples of genetic disorders are Down syndrome, Turner syndrome, and Breast/Ovarian cancer. Down syndrome, also called Trisomy 21, is a developmental disorder which is caused by an extra copy of chromosomes 21. It is named after John Langdon Down who is a British physician who described the syndrome in 1866 (Living With Down Syndrome). The extra genetic material causes delays in the way a child develops, both mentally and physically. The physical features and medical problems associated with Down syndrome can vary widely from child to child. While some children with Down syndrome need a lot of medical attention, others have healthy lives. Children with the disorder tend to share certain physical features such as a flat facial profile, upward slant of the eyes, small ears, and a protruding tongue. Although some children with DS have no significant health problems, others may experience some medical issues that require extra care. One medical issue is pulmonary hypertension which is a serious condition that can lead to untreatable damage to the lungs. To detect this issue all infants should be evaluated by a pediatric cardiologist. Two other medical issues...
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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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...Edward's Syndrome Edward's Syndrome, also known as Trisomy 18 Syndrome, was discovered in 1960 by Dr. John Edward. It is a very rare inherited genetic disorder that is likely in one out of every five thousand births. Children with the syndrome have an extra chromosome 18, causing the child to have many malformations and mental retardation. Nineteen out of twenty of the children with the Edward's Syndrome die before their first birthday. There are three types of the Trisomy 18 Syndrome. The first one is most common it's called Full Trisomy 18. In this case a full extra chromosome is present in each cell. This type is not hereditary. The second type is very rare, it's called Partial Trisomy 18. This type of the syndrome can be hereditary. It occurs when only part of the extra chromosome is present in each cell. The third type is Mosaic Trisomy 18 this is also very rare. The extra part if the chromosome is only present in some of the cells, not all. The defects of Edward's Syndrome can target the brain, heart, craniofacial structures, kidneys and stomach. The children that make it thorough birth appear fragile and weak, many are underweight and have micrognathia. Many of the surviving children have these problems because of the malformed extra chromosome, just one little chromosome can really make or break someone's life. The syndrome can be diagnosis by taking a blood sample from the fetus to look at the chromosome line up. Edward's Syndrome can also be diagnosed by a few other test...
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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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...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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