Fragile segment of DNA pg.58) of this FMR1

Fragile
X Syndrome is considered to be one of the most commons forms of inherited
mental disabilities and its cognitive, behavioral, and physical phenotypes vary
depending on the individual’s gender. Fragile X Syndrome is generally a disease
that is inherited through the X chromosome humans carry (they are CARRIERS) and has been considered the
most common inherited cause of intellectual disability. Fragile X Syndrome
(FXS) is inherited throughout many generations of families and is developed by
an abnormal expansion with the number of trinucleotide CGG repeats. It is
caused by a defect in our FMR1 gene located on the X chromosome, which is one
of the two types of sex CHROMOSOMES (rod-like
structures in the cell nucleus that store and transmit genetic information pg.

51) humans have. It is formed by the X chromosome in our bodies being abnormally
susceptible to damage. Males are considered to be affected more from this
syndrome due to the X-LINKED MUTATION
INHERITANCE, meaning there is a mutation in a gene on the X chromosome males
have that causes the phenotype to be shown in males. The MUTATION (a sudden but permanent change in a segment of DNA pg.58)
of this FMR1 gene prevents the GENE (a
segment of DNA along the length of the chromosome pg. 52) from forming a
protein known as the “fragile X mental retardation 1 protein” which plays a
part in the nervous system and how it functions, therefore a lack of shortage
of the fragile X mental retardation 1 protein causes the diagnosis of Fragile X
Syndrome.

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Fragile
X Syndrome includes a range of developmental problems occurring within learning
disabilities, cognitive impairment, and social or behavioral problems as well.

Some common symptoms involved within FXS include talking delays, anxiety, and
hyperactivity. Seizures tend to occur in about 10% of peoples with Fragile X
Syndrome. It is the closest comparison to DOWN
SYNDROME. Those affected by this syndrome typically have a delayed
development of language and speech by the age of two years old. It is known as
the most common heredity cause of mental disability in males and is much less
common in females. For boys it is 1 out of every 4,000 males while with girls
it is 1 out of every 8,000 females, which is quite a significant difference
between genders. It is either a chronic or lifelong disease and very few people
can live independently if they do have it because of mental disability being a
key factor. There are some physical characteristics that may come about with
FXS such as having a large forehead, ears, a prominent jaw, narrow face,
oversized ears, forehead and chin, flexible joints, and flat feet.  

To receive
a proper diagnosis of Fragile X Syndrome, you are able to take a DNA blood test
known as the FMR1 DNA Test and if you are seen as an advocate of FXS your
doctor is able to do further testing on the development of the gene. FXS cannot
be treated/cured, but typically a form of treatment is to help people with FXS
develop good language and social skills at an early age. Educational,
behavioral, and physical therapy are helpful when treating FXS and some
medications are helpful as well. It is also very important to be aware of
knowing that you carry the gene due to it being given genetically and it is
easily passed on through generations. Symptoms of Fragile X Syndrome vary
amongst different people depending on how severe their condition is. Not all
people with FXS show severe signs and don’t need much treatment, especially if
helped at a young age. Research studies are still being conducted in terms of the
percentages of premutation carriers and there is still a search for a cure as
well.