Triple-X Syndrome (Trisomy X) Introduction Genetic disorders impact thousands of people every year. Triple-X Syndrome (Trisomy X) is a genetic disorder in females that have three X chromosomes instead of the regular two X chromosomes. Trisomy X was discovered by Patricia A. Jacobs back in 1959, and is named after the mutation of an extra third X chromosome. Trisomy X’s symptoms are diagnosed by taking certain tests. Trisomy X is not inherited by the parents. Treatment will vary depending on
severe (1).” A diagnosis of autism can result from any combination of its defined behaviors. In addition to this, there is a host of related disorders, in which some but not all symptoms of autism are present. These include Asperger Syndrome, Fragile X Syndrome, Rett Syndrome and Pervasive Developmental Disorder Not Otherwise Specified (PDDNOS) (4)(2). Because of its characteristic breadth, autism is a good example of the implications of being seen as an individual within a group possessing a defined
which our genes shape our brains. My first paper dealt with the nature-nurture debate and its relation to the brain-behavior problem raised in class. Then, in the second paper, I moved on to a narrower issue in neurogenetics; I wrote about Fragile X Syndrome and the ways in which a specific genetic mutation can drastically change behavioral output. I would now like to enlarge the scope of this outlook on genes and the brain to encompass the topic of the evolution of the human brain. Throughout the semester
Congenital Disability- Fragile X Syndrome There are thousands of disabilities in our world today and people are either born with them or develop them as they grow. A congenital illness or disability is when a person is born with the disability or illness unlike an acquired disability that can occur and develop over time. Fragile X syndrome (FXS) is a congenital disability that happens to be the most common inherited cause of intellectual disabilities. This disease causes developmental problems along
dyspraxia and the autistic spectrum ." (2004): n. pag. Web. 1 Jun 2010. Wattendorf, Daniel. "Diagnosis and Management of Fragile X Syndrome." Am Fam Physician (2005): 111-113. Web. 30 May 2010. . Wijsman, Ellen. "Segregation Analysis of Phenotypic Components of Learning." Am. J. Hum. Genet. 67. (2000): 631-646. Print. World Health Organization "Fragile X syndrome Information." (2210): Web. 28 May 2010. .
Emily Zerona Mrs. Driscoll Honors Biology 14 May 2014 Fragile X Syndrome Fragile X Syndrome is a genetic disorder that causes individuals, mostly men, to develop developmental problems and cognitive impairment. Although men are mostly affected by this disorder, it can affect women as well. Approximately one in four thousand males are affected by Fragile X while only one in eight thousand women are affected (Fragile X syndrome, 2012). Fragile X causes a variety of symptoms such as possible ADD, anxiety
Autism is a condition, or "disorder" that affects many people. Autism strikes at will, when and where it wants. Unlike Downs Syndrome or other birth "defects," Autism leave no marks on those that it strikes. In fact, Autism takes pride in the ability to infiltrate a child's life, while leaving him or her strikingly handsome. Many people may not even know that Autism is there. They blame the child for what it cause him or her to do. This is Autism and it do as it please. Autism spectrum disorder
to be a large factor. Non genetic factors (i.e. maternal infection, prematurity or postnatal infection) may cause 40-50% of the remaining hearing loss. About one-third of children with hereditary deafness have features that are part of a genetic syndrome and there are between 300-400 different forms of genetic deafness that are known. Most children benefit from a genetic evaluation as a dominant diagnostic tool in determining the exact cause of the deafness, and the role of the audiologist is pivitol
Intellectual disability in lay man terms would be the disability to perform intelligent functioning of the human brain. The performance of everyday social and practical skills requires intellectual functioning and adaptive behaviour which are in-built abilities in most normal human beings. The ones who possess intellectual disability are often limited by their intellectual functioning and adaptive behaviour skills. This disability is generally spotted in individuals before they reach the age of 18
Lesch Nyhan Syndrome Lesch Nyhan Syndrome (LNS) was first reported in 1964 by Michael Lesch and William L. Nyhan. It is a rare disorder located on the x chromosome. It is a sex-linked trait, which means that it is passed from mother to son. This condition can be inherited or occur spontaneously as a result of a genetic mutation. It usually appears once in every 100,000 male births. Since the defective gene is recessive, females almost never exhibit symptoms of the disease. However, they can be carriers
retardation. Fragile X syndrome, Down syndrome, Turners syndrome and many other syndromes result from a mutation of a chromosome, an extra chromosome, or too few chromosomes. Discovered in 1991, Fragile X syndrome is considered a fairly new genetic disorder. According to The Fragile X Association, Fragile X Syndrome (FXS) is caused by the expansion or lengthening of the FMR1 gene on the X chromosome, known as a gene mutation. Fragile X occurs more in males than females. “Fragile X syndrome occurs in approximately
KLINEFELTER SYNDROME Klinefelter Syndrome is a syndrome in which a person has an additional X- chromosome. It is not life consuming, but rather people who have this syndrome can live perfectly normal lives proper treatment and care. If precautions are taken early on. Dr. Harry Klinefelter and his co-workers at Massachusetts center hospital in Boston in 1942 first identified the syndrome. These men were of the first to publish a report on this syndrome in its whole, so as to not leave any questions
Angelman Syndrome is a genetic disorder that affects the nervous system. Angelman Syndrome, also known as AS, affects behavioral, cognitive, and developmental functions of children, but most symptoms are not seen till later in the child’s life (Williams et al.). In 1965, Harry Angelman, a British physician, studied 3 children with similar conditions. He noted many parallel features in these children. The original term for Angelman Syndrome was “Happy Puppet”, but in 1982 the term Happy Puppet became
Shaken Baby Syndrome Imagine yourself as a sweet, innocent, precious little baby. You are totally dependant upon adults to give you what you need and most importantly love. Your only means of communication is crying so you cry when you need to be fed, when you need your diaper changed, when you aren’t feeling so well, or when you just want some attention. You are crying and someone comes over to you. They pick you up, but instead of holding you and comforting you, talking affectionately to you,
Treatment for Raynaud’s - 2 - Introduction Raynaud syndrome is an auto-immune disorder in which blood vessels in the digits constrict. It usually strikes females between the ages of eighteen and thirty. “Between three to five percent of people are affected.” (Harvard, 2003) There is no known cause or cure. (Segala et al, 2003) Clinical features primarily deal with (but are not limited to) the digits of the fingers. Other digits that may be affected include toes, nose, and ear lobes. Exposure to cold
Progeria, otherwise known as Hutchinson-Gilford syndrome is an extremely rare, genetic childhood disorder with a reported incidence of about one in a million. Hutchinson reported the syndrome in 1886 when he found the first patient with Progeria. In 1904 Gilford described a second case of Progeria, thus creating the term to reflect the syndrome’s senile features. There are only about a hundred reported cases since the disorder has been discovered over a century ago. Currently, there are about thirty
Locked-In Syndrome and PVS: Implications for Brain = Behavior During our first few class sessions, I became very intrigued by the brain = behavior idea and the I-function. I kept searching for what I thought to be an easy way to approach these complicated issues. We discussed extensively the example of Christopher Reeve, as someone with an intact I-function, but who has lost a certain element of connectedness between total I-function control and his actual body. I became very interested in how
Battered Women's Syndrome: A Survey of Contemporary Theories Domestic Violence In 1991, Governor William Weld modified parole regulations and permitted women to seek commutation if they could present evidence indicating they suffered from battered women's syndrome. A short while later, the Governor, citing spousal abuse as his impetus, released seven women convicted of killing their husbands, and the Great and General Court of Massachusetts enacted Mass. Gen. L. ch. 233, 23E (1993), which
ETHNOGRAPHY ASSIGNMENT Prader-Willi syndrome (PWS) is a distinct condition characterized by neurological impairments causing an altered pattern of growth and development with associated hyperphagia i.e. Over-eating. It is a genetic disorder in which seven genes on chromosome 15 are either deleted or unexpressed on the paternal chromosome. There are three known causes for Prader-Willi syndrome; a) Imprinting mutation b) UDP (Uniparental Disomy) c) Deletion.
The disorder that is called Cri du Chat Syndrome has known many names. These include, but are not limited to, CdCS, Crying Cat Syndrome, 5p-, 5p minus, amd 5p Deletion Syndrome. It can also be called Monosomy 5p and Lejeune Syndrome. The people that have this disorder show many symptoms, the most recognizable being an underdeveloped larynx, which results in infants producing a high-pitched cry which often sounds like, of all things, a cat. The French name is taken from this symptom; the term Cri