The Effects Of Fragile X Syndrome

The Effects Of Fragile X Syndrome
Have you ever felt extra pain when you have fallen or can't ever focus? If you answered yes then
you may have Fragile X Syndrome. This is a genetic disorder where you feel extra pain and can't
focus when you think. My genetic disorder is Fragile X Syndrome. Fragile X Syndrome is a disorder
that causes you to take more damage when you hurt yourself and affects your ability to think. This
disorder is tied to the X chromosome and nothing contributes to it, but it does contribute to De
Grouch Syndrome. De Grouch Syndrome has more advanced affects. The cause is a boy inherits an
X chromosome from only his mom but a girl can inherit it from mom or dad. Some environmental
factors are sound noise and flashing lights that can cause casers. It
... Get more on HelpWriting.net ...

Prevention For Disease Control And Prevention
According to the forecasted statistics of Center for Disease Control and Prevention (2014), the
public health research will most likely provide a better diagnostic resolution to the health concern of
FXS in 2020 (Center for Disease Control and Prevention, 2014). The agency based its claim from
the steady decline of families reporting that they are having a hard time dealing with FXS. Per CDC
(2014), this only means that the public is becoming more aware of this condition. Their participation
contributes to the advancement of knowledge content on this abnormality (Center for Disease
Control and Prevention, 2014). CDC scientists works hard in order to establish preventive services
and interventions to further help out in treating this condition. According to department head, Dr.
Grossee, the challenges in diagnosing FXS remain to be critical, but with the presence of various
measurements that aid in both research and diagnosis of the disorder, different collaborative
procedures are being established which may be accessible and available in the next years to come
(Center for Disease Control and Prevention, 2014).
Treatment for Fragile X Syndrome FRAXXA, one of the leading companies that is in search for a
cure to FXS does its best to extensively study and analyze fragile X syndrome. Although it is true
that there is no cure for fragile X syndrome yet, there are now available procedures and intervention
programs that are meant to control the progress of the condition. These

Fragile X Syndrome Inherited
How is Fragile X Syndrome Inherited?
Genes are a huge part of DNA that are passed from generation to generation. There are many genes
on each chromosome; we have tens of thousands of genes that tell or bodies on how to develop.
Genes are given letters to identify them. The gene responsible for fragile X syndrome is called
FMR1. The FMR1 Gene is on the X chromosome. The FMR1 gene appears in four forms that are
shown by the number of repeats of a pattern of DNA called CGG repeats. Individuals with less than
45 CGG repeats have a normal FMR1 gene. Those with 45–54 CGG repeats have what is called an
"intermediate" or "grey zone allele," which does not cause any of the known fragile X associated
disorders. Individuals with 55–200 CGG repeats have ... Show more content on Helpwriting.net ...
People who are carriers of the Fragile X gene often have high levels of anxiety. Women who are
carriers may experience primary ovarian insufficiency, which is a loss of normal function in your
ovaries which means they don't release eggs regularly, which causes early menopause. Men and
women who are carriers can also develop Fragile X tremor ataxia syndrome (FXTAS), the breaking
down of the brain. Men are more likely to develop FXTAS than women. FXTAS usually occurs at
the age of 50. It can affect balance and memory, and cause tremors and other neurological problems.
A person may be fully affected by Fragile X but not show all of these signs. Here are all of the
symptoms under their given

Fragile X Syndrome Analysis
FMR1 gene mutations cause a broad variety of medical disorders embracing the inherited mental
retardation, mood instability, behavioural quirks, learning difficulties, epilepsy, repetitive rituals and
autism (Hagerman, 2006). Classically, three distinct syndromes share the mutations in FMR1 gene:
(i) The fragile X syndrome (FXS, MIM 309550). It is an X–linked dominant disorder with early
onset, with diminished penetrance and prevailing cause of inherited mental retardation (Garber et
al., 2008). Other disabilities appear sometimes associated, like intellectual and emotional issues,
mood instability, learning difficulties and autism. Furthermore, specific characteristic phenotypical
features may coexist, like macroorchidism, elongated face and uncommon hyperextensibility of
fingers.
(ii) The fragile X–associated tremor/ataxia syndrome (FXTAS). The FXTAS is a neurodegenerative
disorder (progressive cerebellar ataxia) clinically manifest with late onset in about 38% of the male
carriers of the premutation (55–200 repeats) (X–linked recessive disease), where the FMR1 gene is
entirely active (Hagerman et al., 2008). The FXTAS occasionally presents as childhood seizures or
early menopause. Thus, even ... Show more content on Helpwriting.net ...
The menopause occurs as average at age 51, though the inheritance, as investigated in twins and
mother–daughter studies, seems to play its own definite but still barely understood role (Van
Kasteren et al., 1999; Marozzi, 2000). The premature ovarian insufficiency is a continuum disorder
characterized by a follicular dysfunction and/or depletion of primordial follicles before age 40,
leading to infertility (~1% of the population). Once diagnosed POI patients have only 25 IU/L twice
in more than 4 weeks apart), low AMH and oestrogen levels (and associated osteoporosis)
(Goswami and Conway, 2007). Moreover, POI is present in ~15 to 21% of female carriers of the
premutation (Wittenberger et al., 2007; Liu and Cox,

The Genetic Mutation Fragile X Syndrome Essay
The genetic mutation Fragile X syndrome occurs on a segment of human DNA. Because the disease
was first studied in 1943 by British physician James Purdon Martin and British human geneticist
named Julia Bell, Fragile X is also referred to as Martin–Bell syndrome. Though it was not until
1969 that scientist Herbert Lubs discovered what exactly causes Fragile X syndrome. He explained
that those who obtain the mutation will possess an X chromosome with an unusual gap. The gap
located on the chromosome is called a 'fragile site,' which is where the name originates from. Fragile
X is genetically passed down to offspring, so researchers are striving to improve the symptoms in
hopes that they can create a better future for the victims. Genetic mutations are permanent changes
in a DNA sequences that makes up a gene. The majority of disease–causing gene mutations are
unusual in the overall population. The two major classifications of gene mutations are hereditary and
somatic mutations. Hereditary mutations are immediately inherited from a parent and exist
throughout a person's life. If the DNA from the sperm or egg cell contains a mutation, the resulting
fertilized egg will also inherited the mutation. Somatic mutations occur by either environmental
factors or when an error appears during DNA replication. Unlike hereditary mutations, a somatic
mutation will not be present in every cell. Mutations typically have a negative connotation;
however, they are not always harmful,

What is Autism?
Autism is a varied family of disorders, and its prevalence is on the rise. Today, one in 110 children
are diagnosed with Autism. Although there are a few drugs available to treat repetitive behaviors and
irritability, associated side effects can limit their use. Currently there are no effective treatments for
the core symptoms of Autism which often include language and communication shortfalls,
intellectual disability, epilepsy, attention deficits, and hyperactivity (Dolan et al. 5671). Fragile X
syndrome (FXS) is the most common inherited form of intellectual disability and is universally
recognized as the monogenic cause of Autism. The gene responsible for Fragile X Syndrome,
FMR1, is located on the long arm of the X chromosome. It contains a CGG repeat sequence in the
5'–untranslated region that, on expansion to greater than 200 repeats, results in gene methylation and
transcriptional silencing of the FMR1 gene. The absence of its protein product, fragile X mental
retardation protein (FMRP), is responsible for the clinical symptoms and pathologic findings of
FXS. In the past few years, a plethora of research has been conducted in regards to Fragile X
syndrome. Many scientists are hoping to uncover therapeutic agents that not only address the
secondary symptoms, but the root cause of the disease as well. Absence of FMRP had been shown in
a recent study to affect rates of brain protein synthesis in awake and functioning animals. In adult
FMR1 knockout mice, regional

Compare and Contrast Essay: Tay-Sachs, Alzheimer’s,...
Compare and Contrast Essay Date: July 22nd, 2011 Course: Learning Strategies – Learning How to
Learn Name: Sherry Bridgemohan Instructor: Terry Leverton Table of Contents Table of
contents.................................................................................................................. Pg 2 Graphic
Organizers...............................................................................................................Pg 3
Outline................................................................................................................................. Pg 4–5
Rough ... Show more content on Helpwriting.net ...
Main Point C: The similarities and differences between Tay–Sachs and Fragile X as wells as the
similarities and differences between Alzheimer's and Parkinson's. A) Similarities between the
symptoms of Tay–Sachs and Fragile X as well as the treatments or interventions. B) Differences
between the symptoms of Tay–Sachs and Fragile X as well as the treatments or interventions. C)
Similarities between the symptoms of Alzheimer's and Parkinson's as well as the treatments or
interventions. D) Differences between the symptoms of Alzheimer's and Parkinson's as well as the
treatments or interventions. Conclusion: This essay discussed the similarities and differences
between the diseases of Tay–Sachs, Alzheimer's, Parkinson's and Fragile X as well as their
symptoms, treatments and intervention strategy's. Compare and Contrast Essay: Tay–Sachs,
Alzheimer's, Parkinson's and Fragile X Syndrome Rough Copy There are many diseases in the
world that can have severe negative impacts on a person and their family. Many neurodegenerative
diseases are caused by genetic mutations. This essay will be discussing the similarities and
differences between the diseases of Tay–Sachs, Alzheimer's, Parkinson's and Fragile X as well as
their symptoms, treatments and intervention strategy's. In order to compare and contrast these
diseases they are put into two groups based on the times that they develop in the human body.

Communicating with Fragile X Syndrome Children Essay
Did you know that about 1 in 4,000 males and 1 in 8,000 females are affected by Fragile X
Syndrome(CDC)? Fragile X Syndrome affects does not only affect the young or the old but it will
affect anyone of any age. Children who have Fragile X Syndrome can learn many different ways of
communicating with others. Also there are many ways to help a Fragile X children become more
socially active. There are many ways to help Fragile X Syndrome children to communicate. Fragile
X Syndrome effects people of all ages from birth till death, in many different ways. Some people
with the syndrome will show signs and symptoms but others may show none. Females often will not
show signs or symptoms and the only way you can tell is through testing, but on ... Show more
content on Helpwriting.net ...
There are many different signs and symptoms that will show if a child has Fragile X Syndrome.
Some of the physical signs that will often tell if someone has FXS: elongated face, large and
protruding ears, flat feet, large testes, low muscle tone, and cluttered/nervous speech.
They will most likely have behavioral symptoms that will be fairly obvious. Some of the these
symptoms are: stereotypical movements, atypical development (shyness, limited eye contact,
memory problems, difficulty with face encoding) and some will meet diagnostic the criteria for
autism. Children will Fragile X often have very short attention spans and are very sensitive which
can cause them to react to large crowds by throwing tantrums. Behavioral issues differ between age
groups, they will learn whats allowed in certain situations. These children learn at a pace of 2.2
times slower than the average, unaffected child(Wikipedia). Do to their mental age the can have
troubles with distinguishing and highlighting certain features on peoples faces and on objects
therefore it will decrease their mental ability to remember certain things and people. Children with
Fragile X do not usually begin speaking until they are older or they cannot speak at all. While the
children are still young they may often get middle

According to the World Health Organization, a disability is "any restriction or lack (resulting from
any impairment) of ability to perform an activity in the manner or within the range considered
normal for a human being" (WHO). Although one may have a disability, they should not be stopped
or told they cannot do something due to their disability. Fragile X syndrome (FXS) is one of the
most common learning disabilities that cause social and behavioral problems (Dew–Hughes, 2003).
Every child deserves the same opportunities and experiences, which is why students who have
Fragile X syndrome or any other disability should be included in the Physical Education. When
including and working with a child who has FXS one should be aware of the history ... Show more
Whether a child has a disability such as blind, deaf, one–arm, in a wheelchair, autism, or FXS, they
still should have the same opportunities as all other students. However, when including a child with
a disability, it is important to note each child's difference and how each one learn and communicated
to be able to work with each individual and meet their needs. One must know the many ways to
prepare a physical education program for inclusion and appropriate modifications and motor
movements for the

Fragile X Research Paper
ragile X;
1. Provide a description of the disability and its causes. Include any relevant information such as
statistics and diagnosis procedures.
Fragile X Syndrome is a genetic condition causing intellectual disability, behavioural and learning
challenges and various physical characteristics, it occurs in both genders but effects males more.
Also is the most common gene for Autism worldwide, every week in Australia one child is born who
is fully affected and 20 children are born who are carriers. It is estimated that 5 per cent of people
with a diagnosis of an Autism Spectrum disorder also have Fragile X.
2. Identify any stereotypes pertaining to the disability. Anxiety and shyness
Attention Deficit Hyperactivity Disorder (ADHD)
Autistic type behaviours
Difficulty with eye contact
Tactile defensiveness ... Show more content on Helpwriting.net ...
Explain how the disability might affect student learning.
A student with fragile x will respond well to a calm classroom this can be difficult because a
classroom typically has more than 6 students which makes it hard to keep a calm quiet environment.
Students with fragile x may need extra help in areas such as speech and language, cognition,
behaviour, sensory–motor and academics.
5. Explain how you can support students with the disability to learn new skills and concepts.
Side by side teaching, minimize eye contact and social anxiety
Presenting tasks as a whole instead of step by step – due to children with fragile x have difficulty
linking things together.
Presenting things visually
Avoid direct questions.
Having structure and routine.
Simple instructions.
6. Identify any inappropriate behaviour that a student with the disability might display and explain
how you would deal with inappropriate behaviours.
Hyperactivity/short attention span – allow time to complete a task so if your student needs 2–3
movements breaks during a activity allow that it could be as simple as getting a drink, eating a
snack, going for a walk, then come back to the

Turner 's Syndrome : A Condition That Effects
Turner's syndrome is a condition that effects 1 in 2,500 newborn girls (Bondy, C.A. 2009). There are
many names for this condition including 45 X, TS, Ullrich–Turner syndrome, and Turner syndrome.
While females usually have two X chromosomes, these girls are born with only one X chromosome
or the second X is altered. While some of the babies make it through full term, some who have this
condition are prone to unexpectedly aborting. Diagnosis of the missing or altered chromosome could
happen during development in the womb or any time after birth. Heart defects can be related to TS
along with physical abnormalities that catch the eye of doctors. Not all girls with this condition are
prone to having learning disabilities, but it varies between individuals. Signs and Symptoms The
most common physical characteristic noticed about these individuals after birth is short stature. If it
is not found at birth, a child will stick out around 5 years of age due to not growing as fast as their
peers and become diagnosed with this condition. Other typical physical characteristics include
swelling of hands and feet, delay in puberty and pterygium coli (skin folds along sides of the neck)
(Doswell, Visootsak, Brady, & Graham, 2006). The hairline in the back of the head will be
substantially lower. Also, the eyes will appear to be slanted downward and the ears rotated farther
towards the back of the head. The lack of estrogen from the missing X can cause an array of skeletal
deformities.

Fragile X Syndrome, or FXS, is the most commonly inherited form of mental problems and
disabilities globally. Fragile X is a genetic condition that causes a variety of physical, social, and
intellectual disabilities. Affected children experience developmental setbacks such as taking longer
to sit, walk, or talk in contrast to other of a similar age group. Affected people show certain
symptoms, in childhood and as they grow into adults, and through adulthood. Behavioral and
neurological symptoms of Fragile X syndrome can include stuttering, anxiety, impulsiveness,
seizures, depression, disorganized speech, balance problems, intellectual and learning disabilities,
hyperactivity, attention difficulties, and social issues. Numerous people with Fragile X syndrome
can also experience physical abnormalities. These can ... Show more content on Helpwriting.net ...
Fundamentally, mutations of the FMR1 gene occur in which a DNA segment, specifically the CGG
triple repeat, which contains instructions for producing a protein called FMRP, is excessively
expanded within the gene. Normally the segment is repeated five to forty times in the gene, but in
Fragile X Syndrome the strand is repeated over 200 times. The abnormally expanded segment mutes
the FMR1 gene, preventing it from producing the protein, FMRP. Deficiency of the protein disrupts
functions of the nervous system resulting in the symptoms of Fragile X Syndrome. The condition is
inherited through an X–linked dominant pattern.
In women, the FMR1 gene premutation on the X chromosome can expand to more than 200 CGG
repeats in cells that develop into eggs. This means that women with the premutation have an
increased risk of having a child with fragile X syndrome. By contrast, the premutation in men does
not expand to more than 200 repeats as it is passed to the next generation. Men pass the premutation
only to their daughters. Their sons receive a Y chromosome, which does not include the FMR1 gene.
(fragile

Fragile X Syndrome Research Paper
Fragile X Syndrome
Etiology (cause) – Fragile X Syndrome is inherited. Fragile X is caused by a mutation of the X
chromosome in the FMR–1 gene. This specific mutation is an expansion or lengthening of the gene.
The X chromosome is one of two chromosomes that determines the sex of a person. When this gene
lengthens, it prevents production of a protein that is involved with brain development and other
important functions of the body. In a typically developing human, the FMR–1 gene duplicates
between six and 50 times, however, in someone with Fragile X syndrome, the gene may contain
over 200 duplications. Because there are so many duplication, the gene becomes so long that it
becomes faulty.
Prevalence – Approximately 1 in 4,000 males and 1 in 8,000 females in the United States. Also,
about four times as many females as males are carriers of the altered gene. Fragile X Syndrome is
the most common ... Show more content on Helpwriting.net ...
 Behavioral – Attention Deficit Hyperactivity Disorder, Autistic type behaviors, tactile
defensiveness, repetitive speech, aggression
 Physical –Physical features may be subtly present or not at all but may include: low muscle tone,
loose joints, long narrow face, prominent ears, high palate, large testicles, heart murmur, prominent
forehead and chin, flat feet, frequent ear infections, crossed eyes, seizures
 Social – Difficulty making eye contact, afraid in new situations, not wanting to be touched, social
anxiety, easily upset, trouble making friends
 Communication/Language – speech and communication disabilities, fast speech, mild stuttering,
disorganized speech, difficulty expressing themselves, difficulty speaking in social contexts
 Learning – Moderate intellectual disability in affected males, mild intellectual disability in
affected females, learning disabilities
Associated characteristics, impairments, and medical complications: Attention Deficit Hyperactivity
Disorder, Autism Spectrum Disorder, Fragile X–associated tremor/ataxia

The Fragile X Syndrome
The Fragile X Syndrome is a mutation in the gene Fragile X. This usually means that the X
chromosome of the child appears to be pinched when looked at under a microscope (Akshoomoff,
Pierce, & Courchesne, 2002). This simple pinched mutation causes the child to not develop how you
would expect the chromosome to normally develop. Of course when something does not develop
correctly there will be complications and issues. Researchers have noticed that many children with
Fragile X Syndrome and autism seem to have similar symptoms, especially when it comes to their
social development. This is why they originally thought that Fragile X Syndrome and autism were
connected. This is why sometimes most children are only thought to have ASD or Fragile X

Essay On Fragile X Syndrome
Fragile X Syndrome There are many disabilities today. Some are named and some they are still
researching, to find out what they are. I have chosen Fragile X Syndrome for my research paper. I
chose this because, I feel that many people don't know what it is. In my many years of teaching
early childhood education, I have only came in contact with a child that has fragile X. There is no
cure for fragile X, however with the right support he was able to function in a normal classroom.
Fragile X Syndrome is the most common form of retardation in males and females. It occurs in all
nationalities. Children with fragile X, inherit this from their parents.
"Nearly all cases of fragile X syndrome are caused by an alteration (mutation) in the FMR1 gene
where a DNA segment, known as the CGG triplet repeat, is expanded" (National Human Genome
Reasearch Institution, 2013). Even though it affects both males and females, females usually have a
milder case. The FMR1 (fragile x mental retardation 1) makes a protein, called fragile X mental
retardation protein. People that have fragile X, do not produce this protein. Both ... Show more
Males are more prominent to have more problems, instead of females. About one in four thousand
males and one in females, are diagnosed with fragile X. Any nationality can be effected from fragile
X. Fragile X is inherited through genes, that we inherit from our parents. People can be tested, to
find out if they are a carrier of this gene. Special services and support groups are available for
anyone having fragile X. Most of the time people can be connected to these providers and support
groups through their local health care provider. Most of all cases of fragile X are because, of an
altercation in their FMR1 gene. People with fragile X, their genes in this area are usually repeated
more than two hundred times, which causes the fragile X to be prominent in their

The Genetic Mutation Fragile X Syndrome Essay
The genetic mutation Fragile X syndrome is the most commonly inherited form of intellectual
disability. Because the disease was first studied in 1943 by British physician James Purdon Martin
and British human geneticist named Julia Bell, Fragile X is also referred to as Martin–Bell
syndrome. Though it was not until 1969 that scientist Herbert Lubs discovered what exactly causes
Fragile X syndrome. He explained that those who obtain the mutation will possess an X
chromosome with an unusual gap. The gap located on the chromosome is called a 'fragile site,'
which is where the name originates from. Fragile X is genetically passed down to offspring, so
researchers are striving to improve the symptoms in hopes that they can create a better future for the
victims. Genetic mutations are lifelong variances in DNA sequences. The majority of disease–
causing gene mutations are unusual in the overall population. The two major classifications of gene
mutations are germinal and somatic mutations. Germinal mutations are immediately inherited from
a parent, and they will affect every single cell. If the DNA from the sperm or egg cell contains a
mutation, the resulting fertilized egg also inherits the mutation. Somatic mutations occur by
environmental factors or when an error appears during DNA replication. Unlike germinal mutations,
a somatic mutation only affects the mutated cells. Mutations typically have a negative connotation;
however, they are not always harmful,

Fragile X Syndrome is a genetic condition that causes intellectual disabilities, various physical
characteristics and challenges to learning as well as behavioural issues. It effects both genders but
majority of the time it will affect males more. There is still no cure, although finding the genetic
condition early you can get help from professionals to make sure that people with Fragile X
Syndrome can live up to their full potential.
These are some symptoms in different categories. Not everyone would have these but majority of
the time these are very common.
Behavioural & Emotional– –Anxiety and shyness –Autistic type behaviours –Aggression –ADHD –
Repetitive Speech –Tactile ... Show more content on Helpwriting.net ...
The FMR1 (fragile x mental retardation 1) gene makes protein called FMRP (fragile x retardation
protein) which is needed for normal brain development. These genes are found in Chromosomes.
Males have one X and one Y chromosome (XY) and females have two X chromosomes (XX). In the
X chromosome the FMR1 gene is found, both of the genes and chromosomes have

Reflection On Fagile X Syndrome
Tierani Richardson
SP Reflection 17
Content: Group two presented over Fragile X Syndrome. I will be honest, most of this section will
be from what I read from the slides (or past knowledge presented) because I could not follow that
presentation–but I will talk more about why in the process section. Fragile X is the most common
INHERITED cause of intellectual disabilities. It affects 1 in 4,000 males and 1 in 8,000 females.
The reason it affects more males than females is because the syndrome is caused from a mutation on
the "X" sex chromosome. Since males only have one "X" chromosome, they are more severely
affected. Every person contains the protein that in linked to Fragile X; however, a mutation of this
protein is the reason for the ... Show more content on Helpwriting.net ...
Their expressive language is more delayed than receptive language. (However, isn't everyone's
receptive language usually better than expressive?) There is also an International Fragile X Alliance
that connects 24 countries across 5 different continents to share knowledge, experiences and content
about the syndrome.
Process: This is about to "sound" harsh, but group two was disorganized and boring. I feel like the
group had zero personality. Lindsey has begun every presentation she had done, and did the same
topics, I feel like she should have branched out. Jenna hides during presentations and I can never
hear her. I know she is shy but in situations like that I feel like you must break out of your shyness
for just 5 minutes. Jennifer was extremely monotone; it was hard to listen to. I feel like Rylie tried to
add personality and bring the presentation back to life, but at that point it was a lost cause. I also do
not like how the group bounced around speakers, it was sloppy. I personally think it should have
been divided with history/etiology, assessments, symptoms/cognitive/behavior characteristics,
treatment, and support/cultural with one speaker for each portion. The bouncing around speakers or
stopping a topic in the middle to switch speakers was distracting. I did not like the graph with the
IQ, and apparently, no one else understood it either! I do not feel so bad that I did not know

Abstract
The most common form of inherited mental retardation (MR) is Fragile X syndrome. The mutation
of the gene completely turns off and does not produce the protein needed to make certain all other
genes function properly. It is linked to other disorders. There are many characteristics connected to
Fragile X. For example, neurological, physical, and psychiatric. The cognitive and behavioral
attributes are more significant since they affect how the child will learn and function. Fragile X
children are oversensitive to noise and the activity going on nearby. They will often throw tantrums
and be aggressive (Braden, M., n.d.). Although, this syndrome does not have a cure these children
may be helped with early intervention. Methods of ... Show more content on Helpwriting.net ...
Genes are often named after their condition. The gene is called FMR1 gene; this acronym stands for
Fragile X Mental Retardation gene. It is typical of the FMR1 gene to repeat seven to sixty times the
CGG pattern. This is normally repeated approximately 30 times; however, in this instance it repeats
well above the average. An individual with the syndrome may have well over 200 repeats of the
gene. With such high numbers of the gene created the methyl group bind together with the C bases
(or cytosine) affecting the gene and causing it to be deactivated. This gene is present in everyone
and is responsible for the development of the brain and testes by producing a protein that allows
other genes to work normally (Saunders, S., 1999). Due to the gene not functioning, it does not
create the protein needed for brain development. This is how Fragile X Syndrome

When one is affected with a serious, life–threatening disorder, they tend to feel helpless and ask
"Why me?" Fragile X Syndrome is among these types of disorders. Fragile X syndrome causes
many developmental problems and among them are cognitive impairment and learning disabilities.
This disorder has been shown to be more prominent in males than females (Denman, 2012), and the
victims experience a characteristic language and speech development. The disorder makes a
majority of males experience between mild and moderate intellectual abilities, while 33% of the
female patients are usually intellectually disabled. Symptoms of the condition are hyperactivity
among children and deficits in attention and learning. More than 10% of the females ... Show more
The prevention of the proper formation of the FMR1 gene by the mutated gene has been said to be
the cause of the disorder. Proteins have a key role in the nervous system functionalities. Absence of
the proteins is responsible for the conditions of the Fragile X Syndrome. Research still has a very
long way to go since the full functionality of the protein has not yet been understood. Statistics have
found that in males the condition exists at a ratio of 1:4000 while to females it exists at a ratio of
1:8000 (Fernández, 2011). From these results it has been discovered that most of the time the
intelligence of the female patients of the conditions is very normal and the disease rocks their male
counterparts more. While one might cope with most of the physical problems as a result of the
condition, it is the mental condition that is the largest problem. However, it is usually very
problematic in children during the age of learning how to walk, sit and sometimes to talk in
comparison to other children of their age (Hagerman,

Essay On Fragile X Syndrome
Fragile X syndrome, also called Martin– Bell syndrome or Marker X syndrome is an incurable
genetic condition characterized by inherited mental retardation, intellectual disability and learning
disabilities. This is considered the second most common cause of genetically associated mental
deficiencies, after trisomy 21. A notable feature of this disorder is that the penetrance shows an
increase tendency with passing generations. Although this genetic disorder is incurable, life
expectancy is not affected in people with fragile X syndrome because there are usually no–life
threatening health issues associated with this disorder. Fragile X syndrome is predominant in boys
who present with some level of intellectual disability than in girls who may present only with some
learning disability. Per statistics from www.emedicine.medscape.com, conservative estimates are
that fragile X syndrome affects about 1 in 2500 –4000 males and 1 in 7000 – 8000 females. It also
stated that the prevalence of female carrier status has been estimated to be as high as 1 in 130 – 250
population, the prevalence of male carrier status is estimated to be 1 in 250 – 800 population.
Fragile X syndrome is inherited in an X– linked dominant pattern. This is because the mutated gene
that causes the disorder is located on the X ... Show more content on Helpwriting.net ...
This is a situation in which a DNA segment known as the CGG triplet repeats and is expanded
within the FMR1 gene. DNA segment normally repeats 5 to approximately 40 times. In fragile X
syndrome patients, the CGG is repeated more than 200 times. This abnormally expanded CGG
segment silences the FMR1 gene, which prevents the gene from producing FMRP. FMPR is protein
that helps to regulate the production of other protein and aids in the development of synapses.
Deficiency of FMRP thus disrupts nervous system function and leads to signs and symptoms of
fragile X

Fragile X Research Paper
Fragile X is a genetic condition involving changes in part of the X chromosomes, it is the most
common form of inherited intellectual disability in boys. Often called the most common disease you
never heard of. It was discovered by Martin and Bell in 1943. Effects of this disorder can be,
Physical development where the physical facial appearances will appear after puberty and the more
they age. Also, mental ability like people with this disorder could have some behavioral problems
for example, problem talking, hard to be social, and mental retardation. Overall people with this
disorder health can be affecting the way they learn, how they communicate, and how they act. It is
more common in males. Every 1 in 4,000 males will have this and 1 in ... Show more content on
Helpwriting.net ...
The prevalence figure of 1:1,000 males for fragile X syndrome is an overestimate in a mixed
population. Beaumont Children's Hospital provides a support group for families who have Fragile X
Syndrome. As well as MD junction, and Daily Strength help kids in need for this disorder by
training. Future therapies and current research have also decided to help others with this disability.
Some future therapies can include epigenetic therapies, brain therapy, and behavioral therapy for
anyone who contains Fragile X. There is currently no drug treatment that has shown benefit
specifically for fragile X syndrome. However, medications are commonly used to treat symptoms of
attention deficit and hyperactivity, anxiety, and

In 1943 two men, Martin and Bell discovered a gene condition called Fragile X Syndrome. 2 Fragile
X Syndrome (FXS) is a genetic condition, which may cause an intellectual disability, behavioural
and learning difficulties and various other physical characterstics.1 It occurs when the female gene
(X–gene) is repeated over 50–200 times, this is called Fragile X permutation. 1 In 1969, Herbert
Lubs established the chromosomal test for Fragile X Syndrome. Fragile X Syndrome is an inherited
condition in which the X chromosome is passed on from the parent to the child. If the woman has
the affect X, they will have an increased chance for passing the gene on but as men have an Y as
well as an X chromosome, if they have Fragile X Syndrome, their sons won't be affected as they
have their fathers Y chromosome. It is the most common form of inherited intellectual disability in
males and a major cause of intellectual disability in females.
There is currently no cure for this condition yet and treatment is generally based on the symptoms
the individual has.
During the 1970s and 1980s, the only examination for Fragile X Syndrome was a test in which
blood was taken to test for chromosomes.3 However, this was unreliable as not always accurate. In
the 1990s scientists identified a specific gene that causes Fragile X Syndrome and ... Show more
It is estimated that once a week a child is born who is fully affected and 20 births a week are
affected by Fragile X Syndrome. 1 Another impact that it may have on society is in early pregnancy
through testing such as Amniocentesis or a blood test called non invasive pregnancy testing parents
can be made aware of a fetus that they are carrying that has Fragile X Syndrome. 4 With this
information they may choose to not continue with the pregnancy. This gives the parents options of
choice that wasn't available 20 years ago but also very difficult ethical

Fsx Syndrome Research Paper
The disorder itself:
In males:
fragile X syndrome affects the intellectual ability to process the ability or lack of ability ranges
depending on how sever the case of FSX is because of the FSX the male anatomy is slightly altered
large ears long face soft skin large testicles (macroorchidism) after puberty double jointed fingers
hyper–flexible limbs connective tissues problems (earaches, flat feet, arched palate)
behavioural issues also occur due to FXS
ADD
ADHD autism/ autistic behaviors social anxiety hand biting and hand slapping bad eye contact
sensory disorders / increased aggression risk
those who have FXS will not inherit all of the syndrome, rather they may have a combination of
some the most common are the long face and ... Show more content on Helpwriting.net ...
other females with FXS have mild learning disabilities, emotional/mental health issues, general
and/or social anxiety a very small amount of females who inherit the entire mutation of the FMR1
gene (which causes FSX) will not show any signs of FSX their FSX will only typically be noticed
after another family member has been diagnosed
Statistics about the disorder (who/how many are affecte; any predisposition, etc.) Fragile X
Syndrome is the most recurring disorder of inherited mental slowness it occurs in both males and
females it is more popular in boy as it occurs in 1 and 4000, but can also be present in girl bieng that
1 in 8000 get fragile X syndrome all cases of FXS are developed through the mutation in the FMR1
gene where a part of the DNA (known as CGG triplet repeat) is expanded usually FMR1 DNA
segment is repeated 5–40 times in people with FXS the segment of DNA repeats more than 200
times the extremely expanded CGG inactivated the FMR1 gene this then stops the gene from
creating the protein called fragile x mental retardation protein the absence of this protein causes
FXS because girls have 2 X chromosomes they are less affected than boy that have 1 Y and 1 X the
FXS is present in all

Fragile X Syndrome
By: Ny'asia Galloway
Fragile X Syndrome also known as "Martin–Bell Syndrome" , is an inherited disease that causes
developmental issues with some behavioral problems. Martin and Bell first discovered this disease ,
at first they didn't know that the disease was linked to developmental and behavioral issues until
1977 , then the two figured out that a particular form of mental retardation was X–linked. The
lengthening in the chromosome is stretched more on the FMR1 chromosome. When the gene is
lengthened then the production of a protein stops, which controls functions such as brain
development and etc.
As stated before , Fragile X Syndrome is Inherited in a dominant X–linked sequence. The disease is
caused by the pattern

Characteristics Of Fragile X Syndrome
Fragile X Syndrome is a genetic disorder that causes intellectual disability and is very common. The
main characteristic is that children find it hard to process, understand information and work. You can
identify fragile x syndrome is babies miss important developmental steps, or if their are noticeable
physical traits like a different face or a big head circumference. This disability causes difficulty in
learning, development and in their behaviour social/behavioural.
It is more common in boys than girls, and usually more severe, but anyone can get it. Fragile X
Syndrome is the most common genetically inherited disability with affecting around 100000
Australians. Statistically in the world, fragile x syndrome effects 1 in 4000 males and 1 in 8000
females. It is estimated that in Australia, 1 child per ... Show more content on Helpwriting.net ...
The X chromosome is a sex chromosome which is normally seen in women as (XX) and in men
(XY). The FMR1 is a mental retardation gene. Its main function is to give a set of guidelines for the
body in making protein. When this gene is lengthened the process of making the protein is stopped
and involves brain development and other functions. Fragile X Syndrome can be passed down
through generations. A daughter born to a father who has FXS will be affected but the son will not
be effected as they do not inherit the fathers X chromosome. If the mother has FXS both genders
have 50% of inheriting this syndrome.
Management of Fragile X Syndrome can start with an individual assessment and designing
medication specifically made to help manage the effects of the syndrome. This medication can
manage behavioural and emotional issues commonly seen in FXS like anxiety, ADHD, OCD, and
mood instability. Management also includes for family members and people dealing with people
with FXS to understand the syndrome and how to get treatment and sort out education plans if they
are to attend

Essay on Fragile X Syndrome
Background (576 words)
The most common cause of inherited mental impairment is Fragile X Syndrome. Fragile X
Syndrome is a mental retardation that affects social, learning and intellectual disabilities. It is a
result of a change and mutation in a single gene, which can be pasted on to future generations.
Symptoms arise when the mutated gene, FMR1, cannot produce enough of the protein, FMRP, that
the body's cells need to function. The symptoms can vary from each affected individual depending
on how severe the gene mutation is. Fragile X causes symptoms such as intelligence and learning
difficulties. Those who are effect normally have an IQ of 75 or less however this is more variable
depending on gender, physical appearance, social and ... Show more content on Helpwriting.net ...
Around 1 in 400 to 6000 females in the world are also born with the full mutation and will show
features of the disease. On the other hand, roughly 1 in 800 men and 1 in 260 women in the world
are carries of the Fragile X pre–mutation. Furthermore, a recent 2004 analysis indicates that the
quantity could be as high as 1 in 130 women, which shows that there may be a rapid increase of
carriers of the disease (The National Fragile X Foundation, 2011).
Fragile X Syndrome affects the X chromosome, genes and DNA. It affects the X chromosome by a
locus as seen in figure 2 below. A clear comparison can be made between a normal X chromosome
and a Fragile X affected X chromosome. The genes and DNA are affected by a section of
nucleotides in which the triplet CGG nucleotide sequence is repeated. If the triplet is repeated over
200 times in a person, then they are most likely to suffer from fragile X Syndrome as seen in table 1.
Number of Repeats Condition
5–44 Normal
45–54 Gray Zone, no measurable risk for affected children, but gene may be unstable
54–200 Pre–mutation, carrier
200 and greater Full mutation, affected
Table 1: Number of DNA repeats and the condition (Maddalena, 2008)
Unfortunately there is currently no cure for the disease. Nevertheless, there are many special

Causes Of Fragile X Syndrome
Fragile X Syndrome
Fragile X Syndrome is a genetic disorder caused by a disruption in the FMR1 gene and is the most
recurrent inherited form of intellectual disability (Bagni, et al., 2012). It can cause a variety of
mental effects ("Fragile X syndrome", 2017). For these reasons, Fragile X Syndrome has the chance
of being a model of translational neuroscience (Jayaseelan, Tenenbaum, 2012).
General Facts About Fragile X Syndrome
Fragile X Syndrome (FXS) is a trinucleotide repeat expansion disorder where triple expansion is
preventing expansion of the FMR1 gene. (Bagni, et al., 2012; "Fragile X syndrome", 2017)."
Regarding this, Jasaseelan and Tenebaum state that Fragile X syndrome was the first disorder found
to relate to RNA regulation to ... Show more content on Helpwriting.net ...
Tassone, F. Neri, G. et al. "Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics."
Journal of Clinica l Investigation, vol. 122, no. 12, 2012, p. 4314+. Science in Context,
http://link.galegroup.com/apps/doc/A312510065/SCIC?u=cobb90289&xid=53eeaf73.
Fragile X syndrome. (2016). Funk & Wagnalls New World Encyclopedia, 1p. 1. http://proxygsu–
scob.galileo.usg.edu/login?url=https://search.ebscohost.com/login.aspx?
direct=true&db=funk&AN=FR070350&site=eds–live&scope=site Jayaseelan, S., & Tenenbaum, S.
A. (2012). Signaling pathways of fragile X syndrome. Nature, 492(7429), 359+. Retrieved from
http://link.galegroup.com/apps/doc/A359733151/SCIC?u=cobb90289&xid=6c99b104
Quercia, N., MS, CCGC, CGC, & Alic, M., PhD. (2016). Fragile X Syndrome. In T. Moy & L.
Avery (Eds.), The Gale Encyclopedia of Genetic Disorders (4th ed., Vol. 2, pp. 712–715).
Farmington Hills, MI: Gale. Retrieved from

The Genetic Factors of Learning Disabilities Essay
The National Institute of Neurologic Disorders defines learning disorders as a; condition that either
prevents or significantly hinders somebody from learning basic skills or information at the same rate
as most people of the same age. It is important to note that this does not mean that the individual has
less intelligence; it means that their brain or body is wired in a way that hinders or prevents
development of a certain tasks. Many people often confuse learning disabilities with mental
retardation but while both words describe similar conditions, the term learning disability and
learning disorder are used to describe conditions that affect development in certain cognitive areas
in otherwise healthy developed individuals. Millions of ... Show more content on Helpwriting.net ...
This is a very real problem and one in which educators of today and tomorrow will have to face day
in and day out.
The roots of learning disabilities have been debated for ages. There is a general consensus that both
genetics and environment play hand in hand in learning and general temperament formation but the
extant of each is debatable. This led me to my central question of what extent has current genetic
research proved regarding the role of genes in the development of learning disorders. I am interested
in what genetically linked disorders are most prevalent in school aged children and plan to detail the
signs and symptoms of the three most prevalent disorders and the current believe about their causes
at molecular level. The first learning disorder that I would like to discuss is Fragile X syndrome.
Fragile X, often called Martin–Bell syndrome for it's the man who discovered it is a trinucleotide
repeat disorder that is found on the sex chromosome X. Fragile X was discovered by Bell in 1943
after he examined a family in which all the boys showed signs of mental retardation. He discovered
that the boys X chromosome he found that the long arm had become thin and fragile looking.
Fragile X affects the genders separately due to its location on a sex linked chromosome. The
disorder affects 1 in every 3600 males but only 1 in 4000–6000 females. (World Health
Organization) As true with other sex–linked

Fragile X Syndrome Synthesis Essay
Fragile X Syndrome, also known as FRAXA syndrome, fra(X) syndrome, FXS, marker X
syndrome, or Martin Bell syndrome, is a disorder onset by a genetic mutation in the FMR1 gene.
This gene produces a protein called FMRP which regulates the production of other proteins and
plays a role in the development of synapses, which are specialized connections between nerve cells
(National Library of Medicine, 2014). The FMR1 gene has a DNA segment called CGG triple
repeat, which is repeated about 5 to 40 times in a typically developing individual. There are two type
of mutations associated with Fragile X: A full gene mutation and a gene premutation. In cases of
individuals with a full gene mutation, the CGG segment is repeated more than 200 times (National
Library of Medicine, 2014). ... Show more content on Helpwriting.net ...
This lack of protein causes deficiencies in the relaying of nerve impulses which then leads to an
individual displaying the physical and developmental symptoms specific to this syndrome. Most
males and about half of females with a full gene mutation have characteristics such as a narrow face,
large ears, a prominent jaw and forehead and unusually flexible fingers, and even flat feet and low
muscle tone due to associated problems with connective tissues (National Library of Medicine,
2014). Males tend to have a mild to moderate intellectual disability, while only one–third of affected
females are intellectually disabled (National Library of Medicine). Individuals also suffer from
behavioral problems that include things such attention–deficit/hyperactivity disorders, obsessive–
compulsive fidgeting or impulsive actions, unstable and disproportionate emotional displays,
aggressive and self–injurious behavior related to difficult temperament, and features of autism
spectrum disorders like hand–flapping and poor eye contact (Hersh & Saul,

The Neurobiology of Mental Retardation: Fragile X...
The Neurobiology of Mental Retardation: Fragile X Syndrome
In my previous paper, I wrote on the topic of the nature–nurture debate and the ways it related to the
brain–equals–behavior dilemma. In this paper, I will continue this investigation into the link
between genes and neurobiology, but I will focus in on a particular aspect of the relationship:
neurological disease caused by genetic aberration. There are many well studied and well
documented (thought not necessarily well understood) disorders associated with the X chromosome,
and a large number of these have neurobiological roots and behavioral manifestations. One such
disease is fragile X syndrome. Fragile X syndrome is the most common inherited form of learning
disabilities ... Show more content on Helpwriting.net ...
Men who exhibit the behaviors associated with FXS, then have inherited the disease from their
mothers. To continue with the transmission genetics pertaining to this syndrome, it is also known
that there are more than twice as many female carriers of the disease than male carriers (1). Of the
approximately 1 in 259 women in the population who are carriers of the fragile x mutation, some are
pre–mutation carriers and others are full mutation carriers. The former class is generally unaffected
by the disease. The full mutation carriers, however, exhibit a range of mild to moderate behaviors
associated with learning disabilities and retardation. Thus, the disease can vary in severity, a
behavioral characteristic attributable to the varying degrees of expressivity of the mutant gene
responsible for the disease.
What is known of this elusive mutant gene which is thought to cause fragile X syndrome? The gene
is called Fragile X Mental Retardation 1 (FMR1) and is normally transmitted stably from parent to
offspring in humans as well as in divergent organisms. The mutation consists of excessive copies of
the CGG triplicate (which codes for the amino acid arginine) at the 5 end of the FMR1 gene. This
expansive repeat results in the inability of FMR1 to be expressed (2). Through cloning, it has been
found

Fragile X Syndrome Essay
Research Paper on Fragile X Syndrome
Introduction
Fragile X syndrome is among the common inherited cause of intellectual disability and single cause
of autism. This is caused by the lengthening of the X chromosome and although both male and
female can be affected, males are more prone to be affected than females – with the ratio of
1/4000:1/8000 (1). This is because males have only one X chromosome, while female has two.
Females can be a carrier of this gene defect but their other X chromosome would still be able to
make the protein, whereas male, only possessing one X chromosome would be more affected.
Symptoms of this mutation includes behavioral and learning disabilities, autism disorder, elongated
and narrow face (macrocephaly), macroorchidism ... Show more content on Helpwriting.net ...
This gene contains a CGG trinucleotide repeats in the 5–UTR ranging from 5 to 54 repeats for the
normal population. The 55–200 repeats is defined as premutation because this range is not enough to
cause mental retardation (5). This range were initially thought to have no effect but it is now known
to have the ability to develop a variety of neurological symptoms such as memory loss, executive
function deficit, anxiety and depression, anxiety, and other problems with numerical processing (4).
Also, female premutation carriers have a possibility to develop primary ovarian insufficiency while
elderly preumation carriers have a possibility to develop a progressive neurodegenerative disorder
called fragile X–associated tremor/ataxia syndrome (6). Both of these premutation disorders
displays an incomplete penetrance. A full mutation is when the trinucleotide repeats expands up to
more than 200. This expansion leads to hypermethylation, which then leads to transcriptional
silencing of the gene and inhibiting it from producing its protein – FMRP – which plays a role in
brain development. Figure 1 portrays a simple summarization of the comparison among the ranges
of CGG trinucleotide repeats (in the 5–UTR) of the FMR1

Analysis Of The Fragile X Syndrome
Fragile X Syndrome is a genetic disorder caused by changes to the FMR1 gene. The FMR1 gene
creates a protein that is necessary for normal brain development and it is located on the 23rd
chromosome (which makes it X–linked dominant). It affects both females and males, but it is more
likely to occur in males and typically presents more severely in males. It is estimated at 1 in 4000
boys are affected, while 1 in 8000 girls are affected. Most males and around half of females present
with physical characteristics; long and narrow face, large ears, prominent jaw and forehead, flat feet,
and low muscle tone, all of which become more apparent post–puberty. It causes a range of
developmental disabilities, from learning disabilities to more serious

Exceptional Parenting: Fragile X Syndrome
Exceptional Parenting Research Paper
Congratulation! You're expecting a child! Both you and your partner are thrilled that you got a child,
but until doctor say you that your child has Fragile X Syndrome. Fragile X syndrome the disease
that was passed down from your parents to children through their genes. However, it's causes logical
and developmental disabilities.
When you find out your kid has Fragile X Syndrome you should breathe. Keep in mind that your
child hasn't really changed. Your child is still the exact same beautiful as yesterday. As a parent with
a child having Fragile X it's okay to take the time to grieve. It is to grieve for the loss of what you
expected your life to be like. Your feelings will change knowing that you have

Fragile X Disease Essay
Fragile X is a disease which severely influences the everyday lives of those affected by it. It is a
disease which unfortunately limits an individual in several respects. Physical symptoms include an
elongated face with larger than normal ears and feet. Additionally, the individual will have a difficult
time interacting with others due to shyness and trouble with processing faces, thus encountering
behavioral road blocks. Most importantly, the individual may have intellectual disabilities such as
difficulty with memory, all a result of having Fragile X. Fragile X is the most common single gene
which leads to autism and other intellectual disabilities. Fragile X is transmitted through DNA.
Within the DNA, it has been found that the ... Show more content on Helpwriting.net ...
As previously stated, those with more than 30 repeated trinucleotides of CGG are likely to develop
some form of Fragile X (often referred to as premutation), with those having over 200 repeats
having the full syndrome (also known as a full mutation). All of the repeated trinucleotides are
located within the promotor region of the FMR1 gene. The reason the FMR1 gene produces so little
FMRP is due to a process called methylation. "Methylation is a process which inactivates a gene,
and the larger number of repeats inactivates the gene. When the gene is inactivated, the cell may
make little or none of the needed FMRP." (NICHD 2009). Figure 2: Normal promoter region VS.
Elongated promoter region (NICHD 2009) Intriguingly enough, in certain cases, despite having
200+ CGG trinucleotide repeats within a FMR1 gene, it is still possible to be able to produce FMRP.
One way this can be performed is by being born female. Males are born with an X and Y
chromosome. Females however, are born with two X chromosomes. A female with Fragile X in one
chromosome may not necessarily have Fragile X within the other chromosome. Within the female,
certain cells may choose to activate one of the X chromosomes, and other cells may choose to
activate the other X chromosome. Hence, even though there exists a Fragile X chromosome, not all
cells within the body will use it, thus the production of FMRP is possible using the other normal X
chromosome.

Fragile X syndrome (FXS) is among the most common cause of inherited intellectual disability in
humans, associated with a range of social, behavioural and cognitive impairments and it is inherited
as an X–linked dominant disorder with reduced penetrance. The primary cause of FXS is the
expansion of a CGG trinucleotide repeat located in the 5' untranslated region (UTR) of the X–linked
FMR1 gene. (Huddleston L.B., Visootsak J., Sherman S.L., 2014) It affects both males and females
with a prevalence of 1 in 4000 males and 1 in 7000 females; however affected females tend to have
a lower degree of cognitive disability and a less severe phenotype, relating to the degree of X–
inactivation on the abnormal chromosome. Male patients with FXS present ... Show more content on
Helpwriting.net ...
The gene can be alternative spliced in exons 12, 14, 15 and 17 resulting in different mRNAs and
protein isoforms. The CGG trinucleotide repeat in the non–coding part of the FMR1 gene is
unstable, thus the repeat length varies among normal population, with normal individuals ranging
from 6–55 repeats. The trinucleotide repeat often becomes unstable during maternal transmission to
the next generation, giving rise to the expansion of the repeat. Individuals with 55–200 CGG repeats
are considered premutation carriers, and in patients with FXS the CGG repeats are above 200
resulting in hypermethylation and therefore silencing of the gene's CpG site in the promoter region
(Willemsen R., 2011). Pietrobono and her team, studied the events prior to the inactivation of the
FMR1 gene and demonstrated that the initial events seem to be histone deacetylation and H3–K9
methylation, followed by DNA methylation and H3–K4 demethylation (Pietrobono, R., Tabolacci,
E., Zalfa, F., 2005). However, work carried out on human embryonic stem cells has proven that
FMR1 inactivation is a result of downregulation of transcription and chromatin modifications, prior
to DNA methylation (Willemsen R.,

Fragile X Syndrome: A Case Study
Introduction:
Fragile X syndrome is a trinucleotide repeat disorder caused by the expansion of the unstable CGG
repeat within the fragile X mental retardation 1 (FMR1) gene.
FXS is an X link dominant disease. However, as there are two components to the inheritance of FXS
(inheritance of the fragile X chromosome and whether or not epigenetic silencing of the gene has
occurred in a previous generation) there are some components of its inheritance pattern:
Affected males inherit a fragile X chromosome that had not been silenced in the previous generation
by a cycle of maternal chromosome inactivation and incomplete reactivation.
Father's suffering from Fragile X syndrome will have daughters unaffected by the disease as they do
not inactivate ... Show more content on Helpwriting.net ...
This expansion causes methylation of the CGG region and the upstream CpG island in the FMR1
gene silencing its expression. As a result, little to no FMR1 gene product, fragile X mental
retardation protein (FMRP), is formed and this is what leads to the cognitive impairment in people
with the disorder.
FMRP is expressed throughout the body, especially in the brain, neurons, testes (spermatogonia),
and the ovaries.
FMRP is found attached to ribosomes (both free in cytoplasm and attached to endoplasmic
reticulum), at the bases of dendrites and within dendritic spines. This is indicative that FMRP may
play a role in synaptic function and plasticity.
The association of FMRP with ribosomes is mRNA dependent via large ribonucleoprotein (RNP)
particles. RNP particles contain other proteins including FXR1P, FXR2P, YB–1, CYFIP1, CYF1P2,
NUFIP1 and nucleolin.
FXR proteins are a family of proteins that are related in structure (likely originating from a common
ancestor gene) to FMRP. As a result, they are able to form homotypic and heterotypic interactions
with FMRP. (Willemsen, R., et al. 2004)
FMR1 may go through X inactivation. However, methylation appears

Fragile X syndrome (FXS) is a genetic abnormality during child development;roblems include
learning disabilities and intellectual impairment. One third of people with this disorder have signs of
autism that affect social interaction.
FXS is a condition that is caused by X–linked dominance. This disorder is located on the long arm
of the X–chromosome, on the FMR1 gene. The FMR1 gene provides instructions to make Fragile X
Mental Retardation Protein (FMRP). FMRP protein regulates the production of other proteins and
synapses. This disorder is caused by a mutation in the CGG triplet repeat. Normally the triplet
repeats 5 to 40 times, but people who have FXS's CGG triplet repeat repeats more than 200 times.
This causes the FMR1 gene to be elongated. ... Show more content on Helpwriting.net ...
The sooner a child can get help, the more opportunity for learning because their brain is still
forming. Early intervention provides the best chance of developing to their full potential. With
proper education, therapy, and support, all people with FXS can make progress. All children with
FXS from age 3 to 21, qualify for free education under the law. They can be placed into one of three
types of classrooms: regular, partial, and special. Regular classroom settings are the typical
classrooms, partial classroom setting have children participate in some regular classes but also
smaller classes based on a child's needs, special classrooms are for children who need extra support
at all times. Every state also operates an early intervention program from children from birth to age
3. Therapy such as speech, occupational, physical, and behavioral can help. It is free in a school
setting, but it costs money that insurance may or may not cover in a private setting. Speech therapy
helps improve pronunciation of words, slow down speech, and use language more effectively.
Occupational therapy adjusts tasks and conditions to help ensure the patient feels comfortable.
Physical therapy designs activities and exercises to improve posture and balance. Behavioral therapy
identifies why a child acts in negative ways and find

Fragile X Syndrome Essay
There are many forms of mental retardation. Webster's New World Dictionary defines mental
retardation as "a condition, usually congenital, characterized by subnormal intelligence" (Agnes,
p404). Mental retardation can be caused by a certain birth defect due to a traumatic event during the
mother's pregnancy, or mental retardation can also be inherited. The most common inherited form of
mental retardation is Fragile X Syndrome. Fragile X Syndrome was identified in the year 1991. This
disability affects more males than females. Approximately 1 in 4,000 males are affected, however
only 1 in 8,000 females are affected (Lombroso, 2003). Fragile X generates in the FMR1 gene.
Fragile X is caused by an excessively repeating tri–nucleotide, ... Show more content on
Helpwriting.net ...
POF can lead to early menopause or infertility in females with Fragile X. Speech and language can
be two strengths in girls with Fragile X. Verbal skills in girls with FX are also generally good with
no speech problems. The area of conversational skills could be a weakness for girls with Fragile X
(NFXF, 2005). There are many characteristics as you look at both the male and female side of the
disability. One main characteristic is that many people with Fragile X also have autism, or possess
many behaviors that are autistic–like (NFXF, 2006). Autism is defined as "a developmental disorder
marked by impaired social interaction, communication difficulties, etc"(Agnes, p43). About 2 to 6%
of children with Autism have Autism because of Fragile X. About one–third of children with Fragile
X have Autism (NFXF, 2006). Also, many people with Fragile X can be confused to have Downs
Syndrome. The physical characteristics of Fragile X can be similar to Downs Syndrome. These
Fragile X Syndrome 5
characteristics can consist of prominent ears and forehead, high palate, flat feet, and flexible finger
joints (FX Syndrome, 2007). Although many characteristics are similar to Downs Syndrome,
children with Fragile X have been found to have fewer mistakes in many areas of speech than the
children with Downs Syndrome (Roberts, et al., 2005). Other characteristics can range from learning
disabilities to more

The Effects Of Fragile X Syndrome

Recommended

Recommended

More Related Content

More from Liz Sims

More from Liz Sims (20)

Recently uploaded

Recently uploaded (20)

The Effects Of Fragile X Syndrome