FRAGILE X SYNDROME

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FRAGILE X SYNDROME
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• WHAT IS FRAGILE X SYNDROME?

The karyotype occurs in the X chromosome.
People with fragile X syndrome have a broken X
chromosome that appears to have a pre-split area.
The chromosome is not actually broken but
appears damaged and glued. Females can carry the
chromosome but will appear normal due to their
second X chromosome. This disorder appears
mostly in males.
People who have this condition are mentally
retarded, short, and have very large heads
with-long and narrow faces. Some people have
large and prominent ears and foreheads.
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HOW DOES FRAGILE X SYNDROME OCCUR?

• A change in a gene that is inherited at the time
  of conception. This gene, called the FMR1 gene is
  found on the X chromosome. When this gene change
  occurs the FMR1 gene does not work properly. The
  FMR1 gene is responsible for making a protein
  that is important in brain development. Therefore
  when the gene is not working properly brain
  function is affected.

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Can it be passed to future generations?

• Fragile X can be passed on in a family by
  individuals who have no apparent signs of this
  genetic condition. In some families a number of
  family members appear to be affected, whereas in
  other families a newly diagnosed individual may
  be the first family member to exhibit symptoms. 

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HISTORY!

• In 1943, Martin and Bell showed that a particular
  form of mental retardation (later known as
  fragile X syndrome) was X-linked.
• In 1969, Herbert Lubs developed the chromosomal
  test for Fragile X and finds visual proof of the
  linkage of mental retardation and the X
  chromosome.
• In 1991 the FMR1 gene that causes Fragile X was
  identified. 
•  

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Type?

• Duplication Mutation Most people have 29
  "repeats" at this end of their X-chromosome,
  those with Fragile X have over 700 repeats due to
  duplications.

Gene mutation Occurs due to an unstable gene that
mutates frequently in human beings. The mutation
involves multiple errors in the genetic code
that make up the affected gene.
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Diagnosis

• Fragile X syndrome is diagnosed based upon
  developmental
• delays, behavioral characteristics, and physical
  traits
• Family history of mental retardation
• Blood taken from a finger can be analyzed for the
  fragile X gene
• Pregnant women-amniocentesis

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Treatment

• There is no cure for fragile X syndrome, but it
  can be treated through speech and language
  therapy, occupational therapy, physical therapy,
  and psychotherapy. Drugs may be used to treat
  behavioral problems, such as mood swings and
  aggressive outbursts. Children with fragile X
  syndrome usually follow a regular routine and
  avoiding over-stimulation and distractions.

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related
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Bibliography

• http//www.hmc.psu.edu/childrens/healthinfo/f/frag
  ilex.htm
• www.marchofdimes.com. N.p., n.d. Web. 4 Nov.
  2009.      lthttp//www.marchofdimes.com/pnhec/443
  9_9266.aspgt.
• http//www.nfxf.org. N.p., n.d. Web. 4 Nov. 2009.
  lthttp//www.nfxf.org/html/      cause.htmgt.
• http//www.hmc.psu.edu. N.p., n.d. Web. 4 Nov.
  2009. lthttp//www.hmc.psu.edu/      childrens/hea
  lthinfo/f/fragilex.htmgt.
• fregilex. N.p., n.d. Web. 4 Nov. 2009.
  lthttp//www.fragilex.org/html/