Fragile X Syndrome Inherited

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
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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
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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

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
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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 thebrain, 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 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,

Compare and Contrast Essay: Tay-Sachs, AlzheimerвЂ™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.

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 content on Helpwriting.net ...
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

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 helpFragile 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

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 content on Helpwriting.net ...
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 (FernaМЃndez, 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,

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,

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
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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 RepeatsCondition
5–44Normal
45–54Gray Zone, no measurable risk for affected children, but gene may be unstable
54–200Pre–mutation, carrier
200 and greaterFull 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

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 content on Helpwriting.net ...
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

Fragile X Syndrome Research Paper
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 Ychromosome (XY) and females have two X chromosomes (XX). In
the X chromosome the FMR1 gene is found, both of the genes and chromosomes have

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

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

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

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 (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.,

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

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

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

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 aparent 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

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

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

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

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
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

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
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

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
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 Ychromosome. 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.

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

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 content
on Helpwriting.net ...
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

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.

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

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 ...
п‚§Behavioral – Attention Deficit Hyperactivity Disorder, Autistic type behaviors, tactile defensiveness, repetitive speech, aggression
п‚§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
п‚§Social – Difficulty making eye contact, afraid in new situations, not wanting to be touched, social anxiety, easily upset, trouble making friends
п‚§Communication/Language – speech and communication disabilities, fast speech, mild stuttering, disorganized speech, difficulty expressing
themselves, difficulty speaking in social contexts
п‚§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

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

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

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 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,

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

Fragile X Syndrome Inherited

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