Nobody downloaded yet

PWS: Prader-Willi Syndrome - Article Example

Comments (0) Cite this document
PWS is a complex neuro-developmental genetic disease. It is caused by uniparental disomy as a result of failure of expression of paternally inherited genes of chromosome 15. Physical signs and symptoms include distinctive facial features with narrow bifrontal diameter, up slanting eyes, narrow nasal bridge, thin upper lip and acromicria (Yearwood et al., 2011)…
Download full paperFile format: .doc, available for editing
GRAB THE BEST PAPER93.7% of users find it useful
PWS: Prader-Willi Syndrome
Read TextPreview

Extract of sample "PWS: Prader-Willi Syndrome"

Download file to see previous pages Neonatal and infants show lethargy, poor reflexes, feeding, sucking problems and poor weight gain. PWS has an incidence of 1 in 10,000-29,000 people worldwide (Yearwood et al., 2011) while in U.S. its occurrence is reported to be1 per 16,000-25,000 population (Butler, 1996). It is prevalent in all races and both genders. Cassidy and Driscoll (2009) have reported an estimated death rate of 3% per year in a population study. Research suggests frequent causes of death in PWS patients (approx 60%) are cardiovascular disorders and stroke along with complications related to obesity, respiratory disorders, shock pneumonia and hypoventilation (Yearwood et al., 2011). PWS is a consequence of abnormalities of imprinted region of proximal 15q. Research suggests an uncertain relationship between genetics and clinical signs of PWS. It can arise from either paternal or maternal factors however; around 70% of the cases are attributed to paternal inheritance involving a missing gene from chromosome 15 in areas of 15q11-q13. 20% of the cases occur due to maternal uniparental disomy i.e. ...
These include FISH (fluorescence in situ hybridization) which identifies deletions, translocations, chromosomal alterations etc, High resolution chromosomal analysis test which is helpful in detection of chromosomal deletions, abnormalities, translocations and DNA methylation analysis which detects imprinting patterns and DNA polymorphism and is commonly used (99% of the cases) for accurate diagnosis for PWS. Differential DNA methylation of specific maternal and paternal alleles in 15q11-13 chromosomal region evaluates inheritance source of the disease such as paternal only, maternal and biparental (Cassidy and Driscoll 2009). DNA methylation confirms all three molecular classes along with distinguishing PWS from closely related Angelman syndrome in affected individuals. Central nervous system is majorly affected by this disease in particular hypothalamus. The development of central nervous system takes place as early as 3rd week in embryo in the form of neural tube with hypothalamus forming at 5th week. Later hypothalamus modifies and develops to form a hypothalamic endocrine axes responsible for the secretion of hormones. Characteristic GH insufficiency in PWS patients is attributed to hypothalmic dysfunction (Yearwood et al., 2011). This process continues after birth. Lungs, liver, intestinal tract and kidney also start to develop at the same time in embryo. Decreased fetal movement, abnormal fetal heart rhythm, polyhydramnios, breech or mal-presentation may lead to suspected prenatal screening of PWS however; prenatal diagnosis is rarely done (Cassidy and Driscoll, 2009). Prenatal screening of PWS involves FISH by samples obtained from chorionic villus sampling or amniocentesis. Detection of trisomy 15 or deletions on CVS through FISH analysis should ...Download file to see next pagesRead More
Cite this document
  • APA
  • MLA
(“PWS: Prader-Willi Syndrome Article Example | Topics and Well Written Essays - 750 words”, n.d.)
Retrieved from
(PWS: Prader-Willi Syndrome Article Example | Topics and Well Written Essays - 750 Words)
“PWS: Prader-Willi Syndrome Article Example | Topics and Well Written Essays - 750 Words”, n.d.
  • Cited: 0 times
Comments (0)
Click to create a comment or rate a document


Asperger's Syndrome

...Asperger Syndrome Introduction Asperger syndrome (AS) has received relatively little attention in American special education until recently. Not until 1994, did the disorder become a separate classification of developmental disorders in the American Psychiatric Associations Statistical Manual of Mental Disorders (DSM-IV) (Klin, McPartland, & Volkmar, 88). The diagnosis rate of Asperger syndrome appears to be increasing. Recognition of Asperger syndrome as a specific disorder combined with the increase in diagnosis of the disorder places greater responsibility on those who work with and treat those individuals with the disorder to more fully understand and meet their...
6 Pages(1500 words)Term Paper

Prader willi syndrome

...? Prader-Willi Syndrome Christa Haines 5/21 Prader-Willi Syndrome Introduction Prader Willi syndrome is a genetic condition which occurs due to the chromosomal aberration of deletion on the long arm of chromosome 15. The characteristic feature of this aberration is that in all the cases it occurs on the parental chromosome. The syndrome is characterized by obesity, mental retardation, short stature, hypotonia, and loss of sexual functions. The risk factors for the disease are not known as it is a genetic disease which affects the children generally irrespective of their...
4 Pages(1000 words)Essay

Down syndrome

...?Down syndrome According to March Dimes Foundation, the American Academy of Pediatrics Committee on Genetics have found that Down syndrome is a chromosomal condition which involves a number of birth defects (par 1). Down syndrome is characterized with intellectual inability which might be evident in facial appearance, heart defects as well as other health challenges on people suffering from the defect. Studies provide that the severity of Down syndrome disorders might vary from one individual to another. This article is a summary of the causes of Down syndrome. The pattern of prevalence of Down syndrome Medical studies have classified...
4 Pages(1000 words)Essay

Down Syndrome

...? 12 April Down Syndrome Down syndrome (DS) is a genetic disorder that hampers the mental andphysical development of those afflicted. It results when an individual has an extra 21st chromosome, i.e. a total of 47 chromosomes, rather than the usual 46 chromosomes. This condition is also known as trisomy 21. In those born with DS, the extra chromosome interrupts the normal growth and functioning of cells. Babies born with the syndrome are smaller and have fewer brain cells (Bowman-Kruhm 12). Those suffering from the syndrome are easy to recognize as the disorder manifests itself in a number of physical ways, altering the outward appearance of those suffering from it. They...
4 Pages(1000 words)Essay

Biology - Prader-Willi Syndrome

...?PraderWilli Syndrome Introduction It was first described by Andrea Prader and Heinrich Willi in 1956. It is a rare genetic disorder in which seven genes or some subsets are deleted, translocated or unexpressed on the paternal chromosome 15. For the genes affected in PWS, the paternal copy is expressed while the maternal one is silenced. The PWS genes are maternally imprinted making the copy inherited from the father active. With this copy absent in PWS due to chromosomal translocation, both copies are imprinted in the maternal realm making the normal genes absent. Therefore people with...
4 Pages(1000 words)Research Paper

Prader-Willi Syndrome and its Linkage to Genetics

...? Prader-Willi Syndrome and its Linkage to Genetics Table of Contents Contents Page Introduction………………………………………………………….3 2. Phenotypic Features Associated With the Disease………………….4 3. Genetic Features of the Disease……………………………...……...5 4. The Nature of the Defect………………………………….….……..7 5. Cause and Effect Link between the Affected Genes and the Outcome Phenotype…………………………………………………….……..8 6. Diagnosis and Treatment of Prader-Willis Syndrome…….….…….9 7. Conclusion………………………………………………….………10 8. References……………………………………………..….………..12 Prader-Willi Syndrome and its Linkage to Genetics Prader-Willi Syndrome, moreover referred to as PWS, is a genetically linked disorder that afflicts various parts of the human anatomy. The disorder presents... as...
8 Pages(2000 words)Essay

Turner Syndrome

...? Diagnosis of Turner syndrome Turner syndrome is a chromosome abnormality condition d after Henry Turner, endocrinologist , where the females lack or abnormalities in the part or entire sex chromosome, scientifically called monosomy x (Tohem, Tsuang & Goodwin, 2006). A normal human being has 46 chromosomes, two of which are sex chromosomes (Morgan, T. (2007). Boys have x chromosome from their mothers and Y chromosomes from the fathers, while girls have double x chromosomes from both the parents. This condition is rare with an average of 1 to 5000 females; however, this does not call for its underrating. The condition has various symptoms, some of which are physical while the rest are biological (American...
4 Pages(1000 words)Research Paper

Down syndrome

...Running Head Down syndrome Down Syndrome Inserts His/Her Inserts Grade Inserts 24 April 2009 At the beginning of the 20th century, the field of chromosomal disorders was subject to several diverse influences. First, the work of John Langdon Down, gave language development and academic potential cardinal roles in the classification of the children with such disorders. The idiot-imbecile-moron stratification was based largely on levels of language usage: the idiot, mostly mute; the imbecile, limited to a few words for common objects; and the moron, capable of short, focused sentences to express his needs. Currently, severe Down's syndrome is considered to be the result of a major...
6 Pages(1500 words)Essay

Death Syndrome

...Introduction Amid the pressing and widely discussed social problems generated by such notorious diseases as cancer, AIDS, new epidemics like SARS or avian influenza, many of less visible health problems that endanger lives of people may remain largely unnoticed by the public. However, some of such potentially deadly conditions are still far from being fully understood, and therefore, considering the possibility which we will discuss that in reality much more people are susceptible to them than currently thought, beg for their further investigation, and for making the general public aware of them. Among such conditions is what is generally termed as the sudden death syndrome (SDS). This notion pertains to a bunch of...
5 Pages(1250 words)Essay

Aspergers Syndrome

...Aspergers Syndrome Aspergers syndrome is a behavioral condition that is more prevalent in school-aged children especially boys. The major characteristic of this condition is the inability of an individual to integrate and interact with others socially due to communication problems. Most people often do not understand this condition and might deem persons suffering from this condition as mentally ill or ignorant. This paper discusses the occurrence and history of Aspergers syndrome, causes of the disorder, diagnosis as well as its treatment and management. Introduction Aspergers syndrome, also referred to as Aspergers disorder, is a persistent developmental disorder (a...
6 Pages(1500 words)Research Paper
sponsored ads
We use cookies to create the best experience for you. Keep on browsing if you are OK with that, or find out how to manage cookies.

Let us find you another Article on topic PWS: Prader-Willi Syndrome for FREE!

Contact Us