Swyer Syndrome

Swyer Syndrome
Swyer Syndrome, also refered as XY gonadal dysgenesis, is a rare disorder in which sexual
development is affected. Sexual development is usually determined by an individual's chromosomes
but with Swyer Syndrome that is not the case. This disorder affects 1 in 80,000 people. "Sywer
Syndrome was first described in the medical literature by Dr.Swyer in 1955." (2016). Individuals
with this disease are born with 46, XY, Karyotype but have female reproductive parts. Even though
these women are born without ovaries and do not produce sex hormones they can still live a normal
life.
"Chromosomes are packets of genetic code which determine the blueprint for our body" (Ehtisham,
2016). People are born with 46 chromosomes; two of which are called sex ... Show more content on
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It is not likely for Swyer Syndrome to be inherited. It can be from non–genetic causes or from new
mutations in a gene during the formation of reproductive cells or in the early stages of embryonic
development. (2012). "Mutations in the SRY gene have been identified in approximately 15 percent
of individuals with Swyer syndrome." (2016). This gene is located on the Y chromosome, it
provides the instructions for making the sex–determining region Y protein. SRY mutation prevents
the production of the sex–determining region Y protein or it can result in a non–functioning protein.
If the fetus cells' do no produce a functioning sex–determining region Y protein then they will not
develop testes but will develop a uterus and fallopian tubes instead, even though they have a male
karyotype
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A Study On Turner Syndrome
Turner syndrome, also known as Monosomy X, is caused by the deletion of the second X
chromosome in females. This can be a partial deletion or a complete deletion. It is caused by a
random error called nondisjunction, which is "the failure of sister chromatids to separate during or
after meiosis" (Biology Online, 2008). This can lead to an abnormal amount of chromosomes. In
this case, it leads to an abnormality in the sex chromosomes leaving the woman with one
functioning X chromosome. While the specific genes that cause Turner syndrome are unknown,
researchers "have identified one gene called SHOX that is important for bone development and
growth" (National Library of Medicine, 2013). It is believed that a missing SHOX gene is the reason
behind the female's short stature and skeletal abnormalities. Due to the random nature of this
syndrome, it is usually not inherited or passed down. The loss or mutation of the X chromosome is
spontaneous; therefore there is no real pattern of inheritance. Also, it is very unlikely for a woman
with Turner syndrome to pass it down to her daughter. Women with Turner syndrome have one
functioning X chromosome. If the woman does become pregnant, she will only be able to pass down
the functioning X to her child, meaning the daughter will not have Turner syndrome unless she goes
through the same random mutation. According to the Turner Syndrome Society (2016), woman with
Turner syndrome can experience signs and symptoms such as short stature, a

Cornelia De Lange Syndrome
Cornelia de Lange Syndrome typically presents with a constellation of distinctive features affecting
several different parts of the body. There is a wide degree of variation between individuals with the
disorder in the presentation and severity of symptoms; however, the features described below
represent a typical presentation. Slow growth during both fetal and post–natal development is a
characteristic feature of the disorder. Approximately 90% or more of patients display delayed
skeletal maturation, and about 50% were noted to have intrauterine growth retardation (2). Because
of this, individuals with Cornelia de Lange syndrome tend to be short in stature, with height and
weight falling below the fifth percentile throughout life (3). ... Show more content on
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Other limb issues such as small hands (micromelia) and incurved fifth finger (clinodactyly) are
prevalent (3,1). In addition to the above core features, the syndrome tends to have effects on several
major systems of the body. For example, sensorineural hearing loss impacts 80% of children with
CdLS; approximately 40% are severely affected (3). Opthalmological issues, such as myopia (near–
sightedness) and nystagmus are also common. Patients may also have inflammation of the eyelid of
droopy eyelids (ptosis) (1). Neurological issues can include sleep problems and seizures.
Approximately 25% of diagnosed individuals experience seizures (3), which can usually be well
controlled with standard medical intervention (4). Neuroimaging has shown characteristic features
such as enlarged ventricles at the basal cisterns, undergrowth of the brainstem and cerebral vermis,
and atrophied white matter especially in the frotal lobes. High pain tolerance caused by problems
with peripheral neuropathy have also been reported (4). Cornelia de Lange Syndrome can also
include cardiovascular concerns. Congenital heart disease occurs in approximately 25% of
individuals with the disorder. The most common

Reflection On Velocardiofacial Syndrome
Tierani Richardson Reflection 15 Content: Our group was assigned velocardiofacial syndrome
(VCFS). I was excited to receive a syndrome to which I had not been exposed. I was assigned
etiology, history, and incidence/prevalence. I learned that VCFS originates from the Latin words
"velum" which means "palate," "cardia" which means "heart," and "facies" which means having to
do with the face. It is the most common syndrome associated with cleft palate! Additionally, VCFS
is an autosomal dominant condition. This means that once a person is recognized as having VCFS,
they have a 50 percent chance of passing the syndrome on to their offspring. VCFS is characterized
by a small deletion of chromosome 22, more specifically in the region of 22q11.2. This deletion
results in about 30 genes becoming absent from chromosome 22. Two genes in particular–COMT
and TBX1–are associated with VCFS (not all genes that cause VCFS have been identified).
However, I am not sure why these genes are involved. I tried to research the reason, but could not
find a plausible explanation. I also learned that more often than not, neither parent of a child with
VCFS has the deletion of 22q11.2. This means that the condition is NEW in 93 percent of offspring.
The good news is that the chance for the couple to produce another child with VCFS is close to zero.
The deletion occurs as an accident when either the egg or sperm is being formed, OR early in fetal
development. Angelo DiGeorge, MD, is one of the people

Marfan's Syndrome Essay
Marfan's syndrome is a rare hereditary disorder of the body's connective tissue. The phenotypic
traits include being tall, abnormally long stretched limbs and in the most severe cases the aorta can
be prone to rupture and retinal detachment can occur [1]. Seventy five percent of cases for this
multisystem disorder are genetic and inherited in an autosomal dominant fashion (a child can inherit
it from just one parent): 25% are sporadic where neither parent has the syndrome [2]. Its prevalence
is 1/5000 and of these affected individuals each has a 50% chance of passing on the mutated gene to
their offspring [3]. Marfan's syndrome is caused by mutations in the fibrillin–1 gene (FBN1) located
on chromosome 15q21.1 [4]. Fibrillin is a large glycoprotein ... Show more content on
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Two thirds (approximately 66%) of Marfan's syndrome sufferers experience problems in the
cardiovascular system and have mitral valve prolapse; where blood may flow back from the
ventricles into the atrium in a process called mitral valve regurgitation. This may require valve
repair or valve replacement. If cardiac arrhythmias occurs – where the heartbeat becomes irregular –
there is the risk of sudden death [2]. Thoracic aortic aneurysm is also prevalent in Marfan's
syndrome sufferers. This is a condition caused by the widening of the aorta due to weakness in the
walls of the vessel. Aneurysm can lead to rupture itself or to aortic dissection where the aorta wall
tears thus allowing blood to flow between the layers of the blood vessel walls. It can result in
rupture or in a decrease in blood flow to the organs. This situation is very dangerous and is most
likely to require heart surgery or aortic replacement

Turner Syndrome
Introduction Named after Henry Turner, who in 1938 was one the first doctors to report his
discovery in the medical literature on this disorder, Turner Syndrome (TS) also known as monosomy
X. Turner Syndrome is caused by the complete or partial loss of one of the X chromosomes resulting
in 45X chromosomes. This disease affects only girls and women. It is one of the most common
chromosomal disorder and likely the most common genetic disorder of females (National
Organization for Rare Disorders 2012). Individuals are usually diagnosed before birth, shortly after
birth or during early childhood. It is important to diagnosis Turner Syndrome as early as possible.
Genetics and Genotype The normal human body body is comprised of 23 pairs ... Show more
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TS is not directly "treated" by a doctor, but the individual health concerns that arise for each girl or
woman with TS should be monitored and treated by the appropriate specialist (Turner Syndrome
Society of the U.S)." Females with TS have a normal life expectancy but it also depends on the
severity of their case and if they are receiving the medical treatment that they need to live a healthy
life. For example, girls who have heart problems due to TS must see a cardiologist. Turner
Syndrome contributes to only females because we have two X chromosomes and this disorder is the
defect of one X chromosome. There is no cure for Turner Syndrome, but therapies have been
developed that can improve physical treatment. The primary therapies for affected individuals are
growth hormone therapy and estrogen therapy. Most females with Turner syndrome require sex
hormone replacement therapy in order to undergo normal development associated with puberty and
to begin their menstrual

Marfan Syndrome
Marfan Syndrome Have you ever wondered about the diseases that you can get from your parents?
One of these major diseases that can change someone's life is called the Marfan Syndrome. Marfan
Syndrome is a disorder of connective tissue that is inherited from the parents. The bones and
circulatory system are usually the parts of the body that are longer and the ones that are changed
because of the disease.
There are many things that can cause a disease. Marfan syndrome is caused by a mutation in the
fibrillin–1 gene. The gene produces a protein that is essential for formatting the elastic fibers found
in connective tissue. About 75 percent of people with Marfan syndrome inherit the mutation from
one affected parent. A parent who has ... Show more content on Helpwriting.net ...
Examples of organ systems that are affected by Marfan Syndrome would be the Skeletal system, the
muscular system, your heart and you blood vessels. It would affect your bone by making you very
tall, slender, and loose jointed. You're Arms, legs, fingers, and toes may be disproportionately long
in relation to the rest of the body because Marfan syndrome affects the long bones of the skeleton. A
person with Marfan syndrome usually has a long, narrow face, and the roof of the mouth may be
arched, causing the teeth to be crowded. It weakens and stretches your muscles and begins to place
weight on the vertebrae in the lower spine.
It would also start to wear away the bone surrounding the spinal cord. It would also make your heart
weaker and more vulnerable to damage and kill the person with the disease. It would then affect
your blood vessels by making the large artery that carries blood from the heart to the rest of the
body, weak and it will stretch. Then because of this it will increase the risk that the artery will erupt
and if it does it will cause serious heart problems or sudden death.
Our Lives are very short and when you have a disease it makes your life even shorter. People with
Marfan Syndrome have to face this catastrophe everyday of their lives. Wondering when they will
die because of their disease. If I had a genetic disease, I would be very sad and not happy because I
would wonder when I would die. The people who don't

Asperger's Syndrome Essay
Asperger's syndrome, which is also referred to as Asperger's disorder, is a type of Persuasive
Developmental Disorder. Persuasive Developmental Disorder or PDD are a group of conditions that
involve delays in the development of basic skills, the most recognizable of these skills is the ability
to communicate and socialize with others as well as use their own imagination. Although Asperger's
syndrome is similar in some ways to autism, there are important differences between the two.
Children with Asperger's syndrome typically function higher than those children with autism. In
addition to them being higher functioning; children with Asperger's syndrome generally have normal
intelligence and slightly less than normal language development. Hans ... Show more content on
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Problems with social skills include difficulty interacting with others, are often awkward in social
situations, and have difficulty starting and maintaining a conversation. Individuals with Asperger's
syndrome may develop odd, repetitive movements, such as hand twitching or finger twisting. They
might also develop unusual rituals, such as getting dressed in a specific order, and are resistant to
change the ritual. Some communication difficulties people with Asperger's syndrome may exhibit
are, not being able to make eye contact when speaking with someone, trouble using facial
expressions and gestures, and understanding body language. They also have a tendency to
misunderstand language in context and are very literal in their use of language. Individuals could
express limited range of interests; they could develop an almost obsessive interest in a few areas,
such as weather, topics in school, or sports. Many individuals with Asperger's syndrome are
exceedingly gifted or skilled in a particular area, such as history or science. The coordination of
individuals with Asperger's syndrome may seem clumsy or awkward. There is no cure for Asperger's
syndrome but early diagnosis and treatment helps individuals to develop to their full potential. The
principal goal of treatment is to improve the overall ability of an individual to function. Behavioral
therapy uses positive reinforcement, self–help, and social skills therapy to improve behavior and
communication. Medicines are most commonly used to treat problem behaviors, such as anxiety,
obsessive–compulsive behavior or OCD, hyperactivity, and

Down Syndrome In Australia
Down syndrome is a genetic condition not an illness or disease. Us humans are made up of millions
of cells with 46 chromosomes in each cell, Down syndrome occurs when you have an extra
chromosome 21 this is why this condition is also known as Trisomy 21. Down syndrome is not
specific to any race or religion, Down syndrome can occur to anybody although the amount of
people in Australia with Down syndrome is significantly lower to other Countries around the world.
People with Down syndrome often have at least one intellectual disability. Often they have problems
with talking but there are many people who have regular visits with speech pathologists that have
worked they way up to being able to talk clearly. People with Down syndrome are often unhappy to
the way some people treat them, as ... Show more content on Helpwriting.net ...
The worldwide rate is 1 in 700 this is because of the higher termination rates in Australia. There are
currently over 13,000 people in Australia living with Down syndrome.
There is no regular treatment for Down syndrome, the treatment is different for everyone depending
on the physical and mental barriers they have. Someone with Down syndrome will most likely seek
help from specialists, speech therapists and other people to help with the mental and physical needs
of the person. People with Down syndrome are more adept to illnesses or conditions so it is
necessary for them to be checked on by a doctor, etc. more often.
Bibliography
N.p., 2015. Web. 28 Aug. 2015.
Downsyndrome.org.au,. 'Down Syndrome Australia – Down Syndrome Population Statistics'. N.p.,
2015. Web. 3 Sept. 2015.
Dsaq.org.au,. 'Down Syndrome Association Of Queensland'. N.p., 2015. Web. 3 Sept. 2015.
Genetics Home Reference,. 'Down Syndrome'. N.p., 2015. Web. 3 Sept. 2015.
Genetics Home Reference,. 'Down Syndrome'. N.p., 2015. Web. 3 Sept. 2015.
Wikipedia,. 'Down Syndrome'. N.p., 2015. Web. 3 Sept.

Angelman Syndrome and Prader-Willi Syndrome Essay
Angelman Syndrome & Prader–Willi Syndrome
Introduction
Prader–Willi and Angelman Syndrome are two genetic disorders with vastly differing phenotypes
linked by missing genetic imprints on the 15th chromosome's q arm between regions 11 and 13 .
While both orders result in mental deficits, their symptoms are otherwise segregated from the other
in their entirety. The differences in the disorders are the result of differing DNA methylation patterns
present in maternally and paternally inherited DNA. If the deletion occurs in the mother's DNA,
then Prader–Willi Syndrome appears. When the deletion occurs in the father's DNA, Angelman
Syndrome is the result.
The phenotypical differences between the two disorders are drastic. Those with ... Show more
The Nature of the Disease Angelman syndrome is thought to be caused mainly by the deletion of the
maternally inherited copy of UEB3A. A small number of cases are also caused by failures in
imprinting or, very rarely, monosomy 15 in the egg and disomy 15 in the sperm. The profound
mental effects are caused by this gene due to the fact that, while UEB3A's protein is active in
various bodily tissues, only the mother's copy of the gene is active in the brain. The phenotype of
Angelman Syndrome is not overt enough to be detected unless it is being specifically looked for.
EEG scans are capable of detecting the disease at early ages, before it is otherwise possible to
detect.
Prader–Willi
Prader–Willi is caused by either deletions, failure in imprinting, or monosomy/disomy 15 from the
father's side. The genes involved are known to include, but are not known to be limited to SNRPN
and NDN. NDN odes for the protein Necdin, which, in rodents, interacts with neurotrophin
receptors in a way that is not completely understood to promote normal cognitive development.
SNRPN codes for several products, including small nucleolar RNAs, a splicing factor involved in
RNA processing, and a polypeptide known as SNURF. The precise role of this gene is unknown.
Symptoms. Prader–Willi syndrome presents symptoms beginning in utero, where the fetus is less
active than one without the

Rett Syndrome
Rett syndrome (RTT) is a rare random brain & nervous system disorder that only affects girls due to
it being an X–linked mutation and although it is genetic, it is not hereditary; it rarely affects boys,
when it does the symptoms are more severe and the "babies rarely live past birth" (Bhandari, 2017).
The babies usually go through a normal pregnancy and start to show symptoms after the first six
months; they become more prominent at "12 and 18 months, and they can be sudden or progress
slowly." (Bhandari, 2017). Symptoms include "slowed growth, trouble with breathing, no language
skills, problems with hand movements, muscles, and coordination" (Bhandari, 2017). There is no
cure, but the best available treatments include "standard medical care ... Show more content on
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Social stigma is prejudicial attitudes directed towards individuals with mental health problems.
Perceived stigma is internalizing perceptions of discrimination (Davey, 2013). Social stigma relates
to RTT because it can be detrimental to the treatments being implemented; although they may not be
able to talk back to people, they can still understand the world around them. Perceived stigma relates
to RTT because they are still humans and they still have feelings about the way society treats them.
Treating them horribly can make them internalize these actions and hinder their progress in their
treatments and lower their self–esteems. Justice, or fairness, is the bioethics principle that can
reduce the consequences and improve health outcomes because it "seeks to eliminate
discrimination", which directly influences RTT people's behavior ("Bioethics", n.d.). The extreme
social anxiety and the irritableness could be intensified if they were treated unfair compared to their
peers like being ostracized in school. As I mentioned before, they rely heavily on their social support
system, so if that's not strong and encouraging, their chances in treatment declines. Their health
outcomes truly depend on their surrounding social circles; for example, people with Rett syndrome
benefit from peer learning (Bhandari,

Johnson Munson Syndrome Analysis
Johnson–Munson syndrome is a rare syndrome identified by missing abnormal vertebrae, fingers
and toes and various deformities of the heart, lungs, intestines, pancreas and intestines. Ophanet a
consortium of European partners defines a condition as rare. In the US population, less than 200,000
people can possibly be affected by Johnson Munson Syndrome or second type of Johnson Munson
syndrome. (Orphanet 2015)
Johnson Munson syndrome will start within the DNA from the formation of the fetus at birth. There
are birth defects that cause the variety of disfiguring parts of the body. There for the limbs may not
be of proper size and these could consist of a toe or finger missing. The toes and fingers can also be
grown together, arms, and legs may not be fully developed. As of today, there is one known risk
factor that has been found within the first year of the child's ... Show more content on
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A few examples are Home blood pressure hypertension test, heart rate monitors, heart ECG,
cholesterol testing, lung function, bladder testing, urinary tract infection test, home cystitis test,
home kidney test, home urine protein test for the kidney, home prostate cancer test, hormone test,
libido test, menopause testing, andropause test, hepatitis test, liver test, sexually transmitted disease
test, stomach ulcer test, colorectal cancer test kits, fecal occult bleeding test kits, food allergy test,
food intolerance testing, water testing, lead poisoning test and heavy metal poisoning test. There are
also undiagnosed with Johnson Munson disease that include chrohn's disease, celiac disease,
heartburn, ulcerative colitis, inflammatory bowel disease, irritable bowel syndrome, carcinoid
syndrome, and pancreatitis. Looking at Johnson Munson syndrome it can be of use to consider the
disease that might have been misdiagnosed. Although another condition that might be of relevance
to diagnose might exist as well (Right Diagnosis,

Stockholm Syndrome
This documentary caught my attention right from the opening lines. People, in general, do not like
to admit when they are wrong, so when the narrator began by claiming that the entire set of beliefs
he had grown up with and lived his life by were wrong and "untrue" it made me stop and consider
how that would affect a person. To have your entire way of thinking be proven invalid would be an
unsettling situation to put it simply. I could not begin to imagine how that would feel, but I tried to
keep this thought in mind as I continued with the rest of the documentary as it explored complex
ideas involving education, employment, and obedience. As someone who is pursuing a higher
education by attending college, I believe education is incredibly ... Show more content on
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I can't say that I honestly enjoyed watching it, but then again that is not the point of a documentary
such as this. This documentary, although not the most exciting to watch, forces you to constantly
evaluate and consider the information being presented to you. There were times I would have to
rewind just to give my thoughts a second to catch up, and in that sense, the film fully accomplished
its goal. In discussing complicated ideas such as education, employment, and obedience it showed
me just how narrow my scope of the world is, and I think I can better understand what the narrator
meant and how he felt when he said: "almost everything I was brought up to believe turns out to be

Tourette Syndrome Essays
Tourette Syndrome
Tourette syndrome is an inherited severe neurological disorder usually occurring before the age of
eighteen and is associated with a degree of facial and body tics sometimes accompanied by random
declarations of phrases or obscenities (2,3). The facial and body tics associated with the disorder can
be painful and even embarrassing. Involuntary body movements such as jaw snapping, gyrating,
hopping, and obscene gesturing are to name a few (1). Tourette Syndrome was named after a French
neuropsychiatrist named Gilles de la Tourette who successfully assessed the disorder in the late
1800's(3). Tourette Syndrome claims no specific race or ethnicity. The disorder generally can affect
any ethnic group yet it does ... Show more content on Helpwriting.net ...
Associated with the motor tics experienced by the patient are sometimes more self–destructive
behavior such as head banging, eye poking, and lip biting (1). There have also been cases of various
learning disabilities connected with Tourette Syndrome such as dyslexia (4).
Vocal tic behavior in patients diagnosed with Tourette Syndrome include outbursts of meaningless
words or phrases. The vocal tics disrupt the regular flow of speech and cause the patient to stammer
or stutter (1). Inappropriate outbursts called coprolalia are considered involuntary. Coprolalia may
also take place in this display of vocal tic disorder. However, coprolalia only takes place in a small
number of Tourette Syndrome sufferer's (1).
Each individual suffering from Tourette Syndrome should be evaluated as such. Certain
manifestations of Tourette Syndrome may disable one in certain parts of their life such as in their
school performance, while it may affect another's personality or psyche (3). It may affect a totally
different behavioral dimension in one's life than that of another diagnosed with Tourette Syndrome.
Although research on Tourette Syndrome is ongoing, it is believed that the disorder is

Morquio Syndrome
Morquio syndrome is an uncommon hereditary birth defect that is likely to happen in one of every
200,000 births. This illness may not be noticeable at birth. Some symptoms start between the years
of 1 and 3. This syndrome is an advanced illness meaning that each year the child gets older this
disease gets even worse.
Morquio syndrome belongs to a group of syndromes named mucopolysaccharidosis (MPS).
Morquio is also identified as MPS IV.In kids with Morquio syndrome, the body cannot breakdown
sugar particles called glycosaminoglycans that assistance in building cartilage, bone, eye corneas,
skin and connective tissue.
Individuals with this disease (glycosaminoglycans) 1.will not produce ... Show more content on
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Morquio syndrome is treated in several ways, because the disorder can disturb quite a lot of body
systems. Depending on the intensity of the illness the treatment is different. Some children may only
need cautious observing. Others might need non–surgical or surgical treatments to address precise
features of their condition.
Several children with Morquio disease are detected with orthopedic disorders containing: scoliosis,
kyphosis, skeletal dysplasia, narrow chest, joint conditions and leg deformities. In some cases, these
conditions are present at birth and can be treated when the child is very young.
Depending on your child's needs, orthopedic specialists from our Spine Program, Hip Disorders
Program, Leg Disorders Program or Sports Medicine may treat your child.
My opinion
Cognitive function is typically usual in patients with Morquio syndrome. Bone deformities can
cause significant problems. Such as, the small bones on top of the neck might slip and ruin the
spinal cord, leading to paralysis. Surgery is needed to help correct these problems. But cardiac
complications may lead to death. This disease is very complicated and it's needed of much medical
attention. A million condolences to those who poses such syndrome. But keep trying never give up
stay very

Stockholm Syndrome Or Norrmalmstorg Syndrome
Love can form in many different ways; maybe from first sight, childhood memories, recent times or
kidnapping–wait what? As ridiculous as it sounds, falling in love for your captor or abuser has been
an actual phenomenon that unfortunately exists in our world; Often called Stockholm Syndrome, Or
Norrmalmstorg Syndrome , it is a psychological condition that makes the captive believe in an
alliance with their captor. On August 23, 1973 in Stockholm, Sweden 4 bank workers were taken in
hostage by Jan–Erik Olsson for a 6 day stand–off with the police at the Kreditbaken until the
workers were finally released; Jan–Erik was immediately put under arrest after surrendering.
However, once the captives were freed, they showed shocking behavior of showing sympathy and
made positive relationships with Jan–Erik; this baffled people when the captives started acting like
this considering the fact that Olsson and his accomplice Clark Olofsson tortured them with nooses
and dynamite sticks and threatened to kill them many times during those 131 hours. Gaining the
name thanks to Nils Bejerot, a criminologist and psychiatrist, after he analyzed the victims' brains. A
year later in 1974 came another case of the syndrome; Patty Hearst, the granddaughter and heiress
of William Randolph Hearst, was held captive by the Symbionese Liberation Army and brainwashed
into accepting their ideas. In April she was caught robbing a bank in San Francisco via CCTV and
was sentenced to 7 years of prison in

Marfans Syndrome
The likely inheritance of Marfans syndrome is autosomal dominant and vertically inherited trait. In
an autosomal dominant inheritance pattern, a person only needs one copy of the dominant allele
from one parent to display the disorder. If they do not have Marfans syndrome, they are not a carrier
for the disease. A person who has Marfans has a 50% chance of passing that disease to its offspring,
as long as their partner does not have Marfans. If a person with Marfans were to mate with another
person with Marfans, the chance of transmission is much higher, at least 75%. We can see by the
pedigree that this could be an autosomal dominant disorder in that any persons who have inherited
this disorder have done so, vertically, from an affected ... Show more content on Helpwriting.net ...
Although there is only a 50% that Alex passes down Marfans to his child, each child has an equal
percent chance of inheriting it, regardless is their siblings inherited it. Each child or birth is an
independent event and does not take in to account the previous sibs genotype. Alex and Jane also
have only three children, which is a small sibship and may not truly show a 50% ratio, like it might
if they had 10 children. It does not seem as though there could be a double dominant genotype in
Alex, causing a more than 50% chance of passing risk, because that would mean that Mary, Alex's
mother would need to have at least one dominant allele, which she does

Prader Willi Syndrome Essay
Within the couple of hours of my niece Janelle being born, doctors were concerned how little she
was and her slow mobility. Unaware of her condition in Brownsville, she was sent to Driscoll
Hospital in Corpus Christie within a couple of weeks. While being in the care at the hospital,
medical doctors diagnosed Janelle with Prader–Willi Syndrome. As you can imagine, so many
questions and thoughts went through her parent's minds. To start, what is Prader–Willi Syndrome
(PWS)? According to Genetic Home Reference, PWS is a complex genetic condition that affects
many parts of the body, such as muscle tone, insatiable appetite, intellectual impairment, and
learning disabilities. Which Janelle experiences these abnormalities and we have to take
precautionary actions on a daily basis. It is a rare disorder present at birth and we can do nothing to
prevent this and ... Show more content on Helpwriting.net ...
Another study states, PWS affects one out of every 10,000 births to 30,000 people globally and
affects both males and females of all races and ethnicities ("What is Prader–Willi Syndrome, n.d.").
In addition, people with PWS have a loss of active genes in the region chromosome 15.
Furthermore, USA Prader–Willi Syndrome Association (USAPWSA) explains, "In PWS, these
critical genes are either missing (deleted) from the father's chromosome 15, functioning improperly
because of an imprinting defect, or the entire chromosome 15 from the father is missing and both
chromosome 15s come from the mother." This complication happens randomly, either during
reproductive or embryo development. For instance, our family has no history of obesity or these
other complications, yet my niece Janelle has a behavior issue, developmental disorders, and has
been diagnosed obese as well as having diabetes type 2 this

Toxic Shock Syndrome
Introduction
Toxic Shock Syndrome, or TSS is a life threatening illness caused by a bacteria called
Staphylococcus aureus . TSS was first discovered in children in 1978. (Venkataraman, 2015) After
the 1978 discovery, the disease itself was nationally recognized in 1980 when it was seen as a health
threat amongst reproductive women, after this epidemic the number of reports of TSS decreased
sharply. (Hajjeh, 2010) S. aureus can be identified as bacteria that, often times will go unnoticed as
it usually does not cause any harm. Around 30% of the world?s population carries this bacterium in
their noses. Although the bacteria are commonly regarded as harmless, in a healthcare environment
it can lead to many serious infections. An S. aureus infection, ... Show more content on
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The first step the doctor takes in attempting to overcome the disease is to identify the source of the
conflict and remove it, if applicable, and proceed treat it. The physician will then,after taking blood
cultures, begin a combination of IV antibiotics. The antibiotics used are of a variety, due to the fact
that S. aureus is resistant to many antibiotics, this variety consists of nafcillin, oxacillin, penicillin,
and clindamycin. Based on the results of the blood cultures the physician may later decide to change
the antibiotics used. While being treated with these antibiotics patients may experience side effects
such as: nausea, headaches, vomiting, joint pain, and vaginal itch or discharge. A physician may also
use dopamine or epinephrine to treat low blood pressure. (Venkataraman, 2015)
Prognosis
Medically, Toxic Shock Syndrome is a very serious disease and is often considered life threatening,
referred to as deadly in 50 percent of cases. (Healthline Media, n.d.) The key to overcoming TSS is
to begin treatment early. If this is done, one will see improvement within 48 hours of medical
attention and often will be able to leave the hospital within a week. (Venkataraman, 2015)
Control

London Syndrome
Final paper
Intro
Poverty and crime has a relationship that goes hand in hand and have been portrayed by specialists
from all fields, from sociologists to market analysts. Today, the legislature is attempting to manage
poverty and confront the issues of criminal activities as they attempt to build up their nation's
economy and society. Beginning from the 1970s, researchers in the US pointed increasingly at the
connection between unemployment, crime, and destitution (Steinbuch, 2013). An assortment of
social, financial, and mental components may bring about dangerous practices, for example, armed
robbery. A sociological hypothesis that states armed robbery might be brought about by variables of
social stratification, absence of social portability, ... Show more content on Helpwriting.net ...
This syndrome happens when a hostage choose not the cooperate with the hostage takers. This
particularly incorporates conduct, for example, debating the philosophy of the terrorist bunch
included, contending with the hostage takers, or turning out to be physically testing toward the
hostage takers (Lee, 2013). The relationship that it creates is one of irritation, disdain and hatred
form the hostage taker. The typical result of this relationship amongst hostage and hostage taker is
not quite the same as that of the Stockholm Syndrome. A hostage takers may come to disdain a
hostage so strongly that at the first change he gets he kills the hostage.
Societal factors that influenced the behavior of

Cri-Du-Chat Syndrome Research Paper
Cri–du–Chat (cat's cry) Syndrome is a rare chromosomal disorder that is caused by the deletion of
genetic material on chromosome 5. Due to this, this syndrome has an alternative name, known as
5p–, or 5p minus syndrome. Although this genetic defect is able to be diagnosed, the cause of the
deletion on the chromosome is unknown. Almost all cases of the Cri–du–Chat Syndrome are found
to have no relation with family members or previous generations. This syndrome is generally not
inherited, as the deletion occurs randomly during meiosis (the formation of the gametes). In about
90% of people who have this condition, the deletion is completely random and is not inherited. The
remaining 10% of affected people inherit a chromosome with a deleted section from an unaffected
parent. This is because the parents' balanced ... Show more content on Helpwriting.net ...
This deletion can occur through a variety of genetic arrangements, in the form of unbalanced
translocation, ring chromosomes, interstitial deletion, and inversion. The main symptom of
individuals with Cri–du–Chat is that at a young age, they have a high pitched cry, that resembles
that of a cat. This cry generally becomes less noticeable as the individual ages. Some of the other
symptoms of Cri–du–Chat Syndrome are mental retardation, hyperactivity, delayed development,
small heads, round faces, low nasal bridges, widely–spaced eyes, low birth weight, and weak muscle
tone. Since the size of the deletion of the genetic material varies between each affected person, these
individuals can all show slightly different symptoms and levels of intensity with these symptoms.
Individuals with this syndrome may come across feeding issues due to difficulties in swallowing
food and sucking in liquids. They also sometimes lack sufficient communication and verbal skills,
and face delays in the progress of learning to walk. There is no cure for Cri–du–Chat Syndrome as
of

Angelman Syndrome : The Happy Puppet Syndrome
According to the US National Library of Medicine (2017), Angelman Syndrome, also known as
Happy Puppet Syndrome is a "complex genetic disorder that primarily affects the nervous system."
Angelman Syndrome occurs when there is a change to the E3 Ubiquitin Protein Ligase Gene
(UBE3A) located on chromosome 15.
Angelman Syndrome was first discovered by Harry Angelman, a Physician in 1965, when he
witnessed three young children who represented similar symptoms. They all had bright, happy
personalities, along with stiff movements, lack of speech and seizures. While in Italy for the
holidays, Harry Angelman visited a museum that showed a picture of a puppet that had the same
physical appearances as his patients. He diagnosed his patients with Happy Puppet Syndrome,
which would later be known as Angelman Syndrome. In 1987, Ellen Magenis, who is also a
physician, identified children who seemed to have Prader–Willi Syndrome, a similar genetic
disorder to Angelman Syndrome. The difference between Angelman Syndrome and Prader–Willi
Syndrome, is that Angelman Syndrome can be caused by the deletion of the maternally derived
chromosome 15, while Prader–Willi Syndrome is the deletion of the paternally derived chromosome
15.
Symptoms of Angelman Syndrome include, but are not limited to sleeplessness, hyperactivity, short
attention spans, feeding difficulties and sensitivity to heat. It is also common for people with
Angelman Syndrome to have developmental delays, lack of speech,

Prader-Willi Syndrome
Prader–Willi syndrome is a genetic disorder caused by the deletion of part of chromosome 15. This
genetic abnormality affects the hypothalamus which influences growth hormones, sex, thirst, and
hunger and is contributed to developmental delay. Children with Prader–Willi syndrome will
develop hyperphagia. Hyperphagia is a serious eating disorder, and is characterized by extreme
overeating to the point where it becomes life–threatening. Hyperphagia is hard to treat and is the
main trait of Prader–Willi syndrome. It is not clear what causes the onset of hyperphagia as it can
develop at different ages. The study looks at whether the young children's unusual eating habits are
explained by changes in appetite hormones. They found that PWS has three

Marfan Syndrome Case
Abstract: Marfan syndrome is a genetic connective tissue disorder caused by mutations in the
FBNI1 and other genes such as TGFBR1 and TGFBR2. The syndrome affects the skeletal system,
the cardiovascular system, the ocular system, and respiratory systems. Marfan syndrome has a
significant mortality rate and it extremely difficult to diagnosis. The syndrome currently does not
have a set treatment aside from surgery and though recent technological advancements have
decreased the mortality rate, many patients are still dying. Patients suffer a poor quality of life and
the demand for a cure is higher than it has ever been.
Have you ever thought you were abnormally taller or longer than others? You probably do not have
it, but for some people, ... Show more content on Helpwriting.net ...
The following question is a very good question to ask. Other than the possible sudden death caused
by the syndrome and the risk of passing the syndrome down to their offspring, Marfan patients are
required to have lifelong medical caution. The syndrome is just as costly as cancer can be, and there
is surprisingly little awareness of it. Many people have never heard of it when asked what it is.
According to Pyeritz, a writer for The New England Journal of Medicine; "For the estimated 25,000
to 30,000 people with the syndrome in the United States, the hope is for a cure" (pg. 5). The age that
symptoms start to appear is low; in "Prevalence, incidence, and age at diagnosis in Marfan
Syndrome"; it states "The median age at diagnosis for the entire Marfan syndrome group was 19.0
years. With males at a median age of 18.3 years and females at an age of 19.9 years" (pg. 3). The
insanity of how difficult the syndrome is to diagnosis makes it one of the reasons people are affected
by

Marfan Syndrome Essay
According to my research, client in the case scenario is potential to evolve into the Marfan
syndrome (MFS). According to the Marfan Foundation the diagnosis of Marfan syndrome based on
a set of defined clinical criteria which are known as the Ghent nosology and systemic score. These
criteria help to facilitate accurate recognition of the syndrome. The 2010 Revised Ghent Nosology
for Marfan syndrome relies on seven rules which are based on the Marfan syndrome based on the
two criteria: Four from the absence of family history and three from the presence of family history
(Radke & Baumgartner, 2014). There are also differential diagnoses available for patients aged 20 or
over to recognise Marfan syndrome (Radke & Baumgartner, 2014).
Every person's experience with Marfan syndrome is differently. Person with this disorder has every
feature or different combinations of features. Some features of Marfan syndrome are easily visible.
These include long limb size, tall and thin body type, curved spine chest sinks in or sticks out,
flexible joints, Flat feet, Crowded teeth, Stretch marks on the skin that are not related to weight gain
or loss. In addition to that some most common but not visible are heart problems, especially those
related to ... Show more content on Helpwriting.net ...
Marfan syndrome is a complex disease characterized by abnormally long, thin extremities and
associated with eye and cardiovascular anomalies. In our case study it clearly states that client has
longer than normal arm span and displayed a higher than normal 'lower body to upper body' ratio.
Physical examination also indicates that the limbs are characterized of being long and long thin
fingers. Both pictures of client in the case scenario shows musculoskeletal abnormalities associated
with Marfan disorder. She also has high, arched palate, and pronated feet which are one of the
abnormalities associated with Marfan syndrome (Kaissi, Zwettler, Ganger, Schreiner, Klaushofer,&
Grill,

Angelman Syndrome
There are many diseases and syndromes that occur in the developmental stage of human
development. One of the many syndromes is Angelman syndrome. When this syndrome was first
discovered by Harry Angelman, it was known as "happy puppet syndrome". This syndrome is not
typically diagnosed at birth, but can also be diagnosed from the ages of one to six. This syndrome is
a neuro–genetic disorder that occurs in one in 15,000 people. Because of its rareness, this syndrome
is often misdiagnosed as autism or cerebral palsy. Make thesis– Angelman syndrome is caused by a
defect in the UBE3A gene, has various symptoms, that can be misdiagnosed, and patients will live
with lifelong treatment. The are various causes of Angelman syndrome, but the main cause ... Show
more content on Helpwriting.net ...
Angelman syndrome can be diagnosed within the first year of the life if the abnormalities are
noticed and investigated, but the disorder is more often diagnosed between 1 and 4 years of age as
the child's abnormalities become more clinically apparent (Bevinetto). In order to confirm the
diagnosis, a blood test must be done to look at the child's genetics (Angelman). Then, a combination
of genetic test can reveal the chromosome defects. There are three different defect tests may reveal:
parental DNA pattern, missing chromosome, or gene mutation. Parental DNA pattern test screens for
three of the four genetic defaults that cause this syndrome. To find out if the chromosome is missing
either a fluorescence in situ hybridization (FISH) test or a comparative genomic hybridization test
(CGH) can show if portions of chromosomes are missing. It is rare if Angelman syndrome occurs
with only a gene mutation. This happens when the UBE3A gene is present and active, but mutated.
A UBE3A gene sequencing test is used to look for maternal mutation (Mayo). After the diagnosis is
complete, treatments are discussed with the patient and their

Lejeune's Syndrome Research Paper
Genetic Disorder that Gives the Cry of a Cat The genetic disorder named "cri du chat" is a partial
depletion of chromosome 5p. Also known as " Lejeune's syndrome" as first described by Jerome
Lejeune in 1969. The name "cri du chat" is a French term, which means cat–cry or call of the cat,
because of how affected children have a kitten like cry. It affects about 1 in 50 000 children born,
predominantly inherited by females by a 4/3 ratio. Although this particular symptom has been
named after, the symptom of the cat like cry may be lost past age 2. There are other symptoms of
this disorder. Other symptoms may include: Feeding problems; Low weight and growth; Speech
problems and motor delays; Behaviour problems; Abnormal facial features; Mental

Down Syndrome Outline
I. Attention Getter: Approximately one in every 700 babies in the United States is born with Down
syndrome, that makes approximately 6000 babies born each year with Down syndrome. Although
physical and cognitive traits are affected by this genetic disorder, individuals can attend school,
work, participate in decisions that affect them, have meaningful relationships, vote and contribute to
society in many wonderful ways.
II. Thesis: Down syndrome is the most common genetic disorder in the United States and it accounts
for much of the learning disabilities found in children today (Staff 2014). Every person with down
syndrome can display different characteristics, including physical, intellectual, and emotional
characteristics. There is no cure for down syndrome but its ... Show more content on Helpwriting.net
...
Conclusion
I. Thesis Restatement: Down syndrome is the most common genetic disorder in the United States
and it accounts for much of the learning disabilities found in children today. Every person with
down syndrome can display different characteristics, including physical, intellectual, and emotional
characteristics. There is no cure for down syndrome but its symptoms are treatable and much can be
done to improve the lives of those with the disorder.
II. Review: There are three forms of Down syndrome, with three different variations of having an
extra chromosome 21. Although there are three different types, they all portray the same
characteristics and all individuals with the disorder should receive individualized care based on their
disorder.
III. Re–Tie Statement: One of the most common chromosome disorders there are people with Down
syndrome leading functional lives in society and I believe as a community people should better
understand the syndrome, that they can lead normal lives with the educational implications I stated

Compare And Contrast Angelman Syndrome And Prader Willi...
Angelman syndrome (AS) and Prader–Willi syndrome (PWS) are both congenital neurological
disorders that cause physical and mental impairment. There are many ways to get AS and PWS, but
genomic imprinting is the most common cause. AS is typically misdiagnosed as Cerebral Palsy or
Autism and symptoms for AS and PWS may vary between patients. There is no cure for AS or PWS,
but physical and mental therapy can help.
AS is caused by a deletion or mutation on the maternal chromosome 15, alteration in UBE3A gene,
paternal uniparental disomy, translocation, or mutation in the gene that activates UBE3A gene. PWS
is a deletion or mutation on the paternal chromosome 15, uniparental disomy, or translocation. The
loss of the SNORD116 gene on chromosome

Essay On Turner Syndrome
Turner syndrome is a chromosomal condition that affects development in females. The most widely
recognized element of Turner syndrome is short stature, which gets to be obvious by about age 5. An
early loss of ovarian function (ovarian hypofunction or premature ovarian failure) is likewise
extremely common. The ovaries grow ordinarily to begin with, however egg cells (oocytes)
generally kick the bucket rashly and most ovarian tissue ruffians before birth. Numerous young
ladies don't experience puberty unless they get hormone treatment, and most can't conceive (barren).
Small percentages of females with Turner syndrome hold ordinary ovarian function through young
adulthood (Turner Syndrome, 2016). Turner syndrome (TS) is a cross–cultural genetic ... Show
In adults Turner syndrome classic symptoms are sexual infantilism, primary amenorrhea, webbed
neck, and cubitus vagus. Some other characteristics are poor breast development and the chest shield
shaped with wide space nipples. 50% of most Turner syndrome cases result in hearing loss. Other
malformations are coarctation of the aorta which is present in about 15% of babies and accounts for
50% of cardiac abnormities in Turner's syndrome. In most Turner's syndrome the verbal IQ is
normal but the motor IQ is lower than the average person because of spatial relationships (Shepard,
2004).
Some studies show girls with Turner syndrome experienced higher risk of behavior problems than
other girls. Growth and height abnormalities various with Turner's syndrome patients. Treatment is
started when the child height declines below the 5th percentile. Most girls will have to take extra
estrogen at puberty to compensate for the ovaries not function. Also when girls are diagnosed with
Turner syndrome it is necessary to obtain an echocardiogram to rule out any cardiac abnormalities
(Shepard, 2004).

Down Syndrome
. Down syndrome is not a disease that someone catches and is not caused by difficulties during the
pregnancy, it is a genetic condition. This condition is caused by the presence of an extra
chromosome in the body's cells and causes a redundant amount of proteins to be formed. All cells of
the body derive from a single cell formed by the fusion of a father's sperm and a mother's egg. Each
cell carries a nucleus full of genetic material known as genes. These genes are inherited from both
the mother and father. Each cell normally contains 46 pairs of chromosomes. 23 chromosomes come
from one parent and 23 from the other, hence the 46 pairs. When it comes to children with down
syndrome, one of the chromosomes does not separate properly and so the ... Show more content on
Helpwriting.net ...
Trisomy 21, also known as nondisjunction, means that there is an extra copy of chromosome 21 in
the cell and is the most common. Translocation occurs when there are two 21 chromosomes plus an
extra piece of chromosome 21 that had attached itself to another chromosome during the division
process. Those who have mosaic down syndrome contain an extra chromosome 21 in only some of
their cells while others are unaffected. People with mosaic down syndrome tend to have milder
physical features and intellectual abilities than those who have trisomy 21 and translocation down
syndrome. According to Mark Selikowitz, maternal age is a significant factor in causing trisomy 21.
When females are born, all the eggs that a woman will produce are already present. The eggs wait
years, some longer than others to be released and it is during the wait period (some 20–40 years)
that it is believed errors can occur. On the contrary, man's sperm does not remain standing therefore
less probability for error. Additionally, people with a family history of down syndrome and people
who carry the genetic translocation are factors to consider whether the child would be at

Down Syndrome Essay
Down Syndrome is a chromosomal condition related to chromosome 21. It affects 1 in 800 to 1 in
1000 born infants. People who have Down Syndrome have learning difficulties, mental retardation,
a different facial appearance, and poor muscle tone (hypotonia) in infancy.
Individuals with Down Syndrome also have an increased risk for having heart defects, digestive
problems such as "gastroesophageal reflux or celiac disease", and hearing loss. Some people who
have Down Syndrome have "low activity of the thyroid gland (hypothyroidism)" – an organ in the
lower neck that produces hormones.
Down Syndrome can be diagnosed in infancy based on the characteristic medical findings. When
Down Syndrome is assumed in a person, a genetic test called a ... Show more content on
Helpwriting.net ...
When there is a heart defect currently in an infant with Down syndrome, the infant is referred to a
"pediatric cardiologist" for medical attention or to a "pediatric cardiac surgeon for early surgical
repair." Some infants with Down Syndrome have difficulties with swallowing or they may have
blockages in their bowels. Surgery can be performed to correct these problems. After they are
corrected, they usually cause no further health issues. Children with Down syndrome may have
"frequent colds and sinus and ear infections." These are treated early and aggressively to prevent
hearing loss and chronic infections. Low thyroid levels are more common in infants who have Down
syndrome. It is recommended that "thyroid level testing" be performed at least yearly. Some infants
with Down syndrome have eye problems such as cataracts (cloudy lenses) or crossed eyes
(strabismus). Surgery can help with these problems. Sucking problems related to low muscle tone or
heart problems may make breast feeding difficult to begin with. "Occupational therapists, speech
therapists, breast feeding consultants and support groups usually have exact sources for the mothers
of infants with Down syndrome." Intelligence in individuals with Down syndrome ranges from low
normal to very slow to learn. At birth it is not possible to tell the level of intelligence a baby with
Down syndrome will have. All areas of development including "motor

Klinefelter's Syndrome
Klinefelter's Syndrome is a genetic disorder that only affects men. Those affected are born with an
extra X chromosome (Belts & Frey, 2006). In 1942, Dr. Harry Klinefelter released a study
concerning nine men who had little to no facial hair, enlarged breasts, small testicles, and were
unable to produce sperm. The name of this syndrome originated from Dr. Klinefelter's name (Kenny
& Henderson, 2015). This disease is often abbreviated as KS or referred to as 47 XXY. It is referred
to as 47 XXY because of the extra chromosome in patients (Schoenstadt, 2016).
Dr. Klinefelter first identified Klinefelter's syndrome in 1942, and by the late 1950s, doctors were
able to identify men with Klinefelter's. Doctors discovered that rather than the ordinary ... Show
Different types of therapies include: physical therapy, speech therapy and testosterone replacement
therapy. In testosterone replacement therapy, patients are given a dosage of testosterone to help with
their bone density and to reduce the chance of breast tissue growth (Klinefelter Syndrome, n.d.).
Testosterone replacement therapy begins around the age of 12. As the patient ages, the dosage of
testosterone is increased to help maintain normal testosterone levels in the blood cells (Klinefelter
Syndrome Prevention and Treatment, 2014.). Being that those with Klinefelter's can have
developmental issues, physical and speech therapy can help to develop stronger muscles in the body
and help overcome speech and language issues (Mayo Clinic Staff, 2016). Other treatments include;
breast reduction therapy, special help in the education field, fertility treatments, and psychological
counseling (Mayo Clinic Staff, 2016; Klinefelter Syndrome, 2007). In situations where the child
with KS has learning disabilities, the school should converse with the child's parent to help develop
an individualized education plans (Klinefelter Syndrome Prevention and Treatment, 2014). Fertility
treatments can be complex, as many of those with KS are unable to father children, because of low
sperm count produced in the testes. For the men who can produce a minimal amount of sperm, a
procedure called intracytoplasmic sperm

Tourette Syndrome
Physical: Tourette syndrome is a neurological disorder that is characterized by involuntary
movements referred to as a tic. The tics can range from being relatively simple to complex. –
Simple: sudden repetitive movements that only involve a small number of muscle groups. Involves
eye blinking, other eye movements, shoulder tension, facial rigidity, and head and shoulder
twitching. –Complex: Very distinct characteristics. These complex tics involve several muscle
groups. Combined facial rigidity with neck and shoulder spasms, sniffing loudly, touching certain
things repetitively, and other large movements such as jumping, bending, or twisting. – Most
Dramatic: large motor movements that self–harm the individual. This may include punching the face
and repeated swearing. Coprolalia is repeating words or phrases of others which offends others
because they are usually curse words or inappropriate words. Only a small percentage of people
with Tourette's have this complex form.
Social: Even though Tourette syndrome is not directly related to social connections with others, it
has been proven that this syndrome can affect this area of growth for an individual. Many children
are aware of their surroundings and when another child is acting up the realize ... Show more
With Tourette syndrome, it can be co–morbid with other disabilities such as ADHD and it is when
the two are paired that there is more impairment of cognitive ability. Some still believe that with
someone who has tics it would be hard for them to focus therefore impair their learning ability. This
picture is a good example what else can relate to Tourette's and why some are affected more than
others. Tourette's is categorized as mainly having the simple or complex tics, but if there are more
symptoms related to attention another disorder may be

Mosaic Down Syndrome
Down syndrome is a cell malfunction that affects people on a day to day basis all across the world.
Down syndrome is a condition in which a person has all or some of the third copy of chromosome
21 present. There are three types of Down syndrome. The first one is called trisomy 21, the second
one is called translocation Down syndrome, and the third one is called mosaic Down syndrome.
Down syndrome is the number 1 genetic condition in the United States and there is an excess of
350,000 people living in the United States with this condition.
As human beings we have 46 chromosomes divided into 23 pairs. Chromosome 21 is one of those
pairs. There are two copies of chromosome 21, one from each parent. This chromosome is the
smallest chromosome in the human body. There are approximately 200 to 300 genes on
chromosome 21. The main job that this chromosome as a whole has is simple. The sole purpose of
chromosome 21 is to manufacture protein cells.
The reason as to exactly why people have Down syndrome is based ... Show more content on
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Mosaic Down syndrome, just like trisomy 21 cannot be inherited and is also just a random event.
Like translocation, mosaic Down syndrome is also very rare, with under 2 percent of cases falling
under this category. The word mosaic Down syndrome comes from the term mosaic art. The reason
being is the fact that mosaic art contains different color tiles, and some mosaic Down syndrome cells
contain trisomy 21 and others contain the normal amount of chromosomes. There are two
differences between mosaic Down syndrome and the other two types of Down syndrome. The first
reason is the fact that mosaic Down syndrome consists of 2 or 3 copies of chromosome 21 rather
than a half or a whole. And the second reason is that the copies of chromosome 21 are only in some
of the body's cells not all of them. In most cases, the children with mosaic Down syndrome scored
higher on the IQ test than children with trisomy 21

Werner Syndrome
Werner syndrome is an autosomal recessive genetic condition associated with the WRN gene (7).
The WRN gene found on chromosome 8 encodes a protein called Werner (4). The Werner protein
works as a helicase assisting in the unwinding of DNA. The helicase belongs to the RecQ helicase
family and assists in DNA repair, maintenance and regulation of telomeres (4). The Werner protein
also functions as an exonuclease that also assists in DNA repair, replication and transcription (4).
The Werner protein has been found to be essential in repairing double stranded breaks during
replication fork stalling (3). The WRN gene and Werner protein demonstrate an essential role in the
integrity and stability of DNA. Mutations and alterations in the WRN gene can

Down Syndrome
CHAPTER 1: THE PROBLEM
A. INTRODUCTION
Having a Down syndrome is such a difficult situation for an individual to have. They have slow
physical and mental capabilities that lead them to discrimination. Physical features of having a
Down syndrome. Including flattening of the head; slanting of the eyelids; a gap between the first
and the second toes; a depressed nasal bridge; relatively small ears, mouth, hands and feet; short
stature; decreased muscle tone and loose ligaments among others. Not every child with Down
syndrome has all of these characteristics and some may have only a few. But other characteristic, if
not appropriately can be including hearing deficits, congenital disease, eye abnormalities, ... Show
HISTORY English Physician John Langdon Down first characterized Down syndrome as a distinct
form of Mental disability in 1862, and in more widely published report in 1866.[9] Due to his
perception that children with Down syndrome shared physical facial similarities with those of
Blumenbach is Mongolian race. Down used the term mongoloid derived from prevailing ethical
theory.[10] By the 20th century Down syndrome had become the most recognizable form of mental
disability. Most individuals with Down syndrome were institution zed, few of the associated medical
problem were treated , and most died in infancy or early adult life. With the rise of the eugenics
movement, 33 of the United States and several countries began programs of force sterilizations of
individuals with Down syndrome and comparable degrees of disability. The ultimate expression of
this type of public policy was ''action 7–4'' in Nazi Germany , a program of systematic murder court
challenges , scientific advances and public revulsion led to discontinuation or repeal of such
sterilization programs during decades after World War Until the middle of 20th century, the causes
of Down syndrome remained unknown. However, the presence in all races, the association with
older maternal age, and he rarity of recurrence had been noticed. Standard medical text assumed it
was caused by a combination of inheritable factor which had not been

Asperger's Syndrome Essay
Asperger's Syndrome Today there are many different types of disabilities and syndromes. When you
have a child to be diagnosed with a disability or a syndrome life can suddenly become
overwhelming. This is especially true if they have been diagnosed with Asperger's Syndrome.
Parents sometimes feel guilty because their child has a disability or syndrome. Parents may feel that
they are responsible for their child's disability or syndrome. Parents may feel guilty about their child
being diagnosed with Asperger's syndrome since it is a neurological disorder. This particular
syndrome is not widely recognized by the general public. Since Asperger's Syndrome is not widely
recognized by the general public, the public sometimes may not ... Show more content on
Helpwriting.net ...
According to the Diagnostic and Statistical Manual–IV of the American Psychiatric Association
(citied in Klin & Volkmar, 1995) the definition of Asperger Syndrome there is a qualitative
impairment in social interaction. There should be at least two of the following impairments in social
interaction: a marked impairment in multiple nonverbal behaviors such as eye contact, facial
expressions, body postures, and gestures to regulate social interaction. A failure to develop peer
relationships. A failure to spontaneously seek and share enjoyment, interest or achievement with
others. Also a lack of social or emotional reciprocity, to exchange with others. Another area affected
is behavior they may have restricted repetitive and stereotyped patterns of behavior, interests, and
activities, as Manifested by at least one of the following: (1) encompassing preoccupation with one
or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus,
(2) unable to change or stick to nonfunctional routines or rituals. (3) repetitive motor mannerisms
and (4) persistent preoccupation with parts of objects. Also Asperger's has no clinically significant
delay in language, cognitive development, or in adaptive behavior. There is still uncertainty in
diagnosing someone with Asperger because of the similarities in high functioning autism and
Asperger. According to Attwood (1998) there can be two stages to

The Disorder Of Down Syndrome
Have you ever wonder or questioned the disorder of down syndrome? According to many National
Down Syndrome Society within the United States, Down syndrome has occurred one out of eight
hundred births. It is the most frequent form of mental retardation and characterized by well–defined
events and distinctive features. It's a lifelong disorder caused by a genetic defeat that's none curable.
It takes people with patients and kind hearts to care for people with Down syndrome disorder.
History
In the late nineteenth century John Langdon Down, an English physician published the description
of a person with Down syndrome. In 1866 his scholarly work was published that gave him the name
"father" of Down syndrome. Where in 1959 the French ... Show more content on Helpwriting.net ...
Its termed trisomy 21 due to the fact it's not an entire extra chromosome 21 that is responsible but
rather a small segment of the long arm of this chromosome. Only two other triomies occurs with any
significant frequency: trisomy 13 (Patau's syndrome) and trisomy 18 (Edwards' syndrome). Trisomy
21 is one of the most common human chromosomal aberrations occurring in about 0.5 percent of all
conceptions and in one out of every seven hundred to eight hundred live birth.
Description
When the sperm cells from the father and the egg cells from the mother are formed, they both
undergo a reduction of their total number of chromosome from forty–six to twenty–three. This
process is called meiosis (which contain one–half of the chromosome number found in the original
cell before division) when a baby is conceived by the combination of one sperm cell with one egg
cell, the baby receives twenty–three chromosomes from each parent for a total of forty–six
chromosomes. Occasionally, an error occurs in the reduction process instead of passing on twenty–
three

Swyer Syndrome

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