BLOOM SYNDROME

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BLOOM SYNDROME

• by Melissa Lichtman

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Occur

• Bloom Syndrome is present when the person with
  the disorder is exposed to sun. And dilated
  blood vessels in the skin and eyes
• The symptoms of this disease include facial
  rashes and the people with this disease usually
  have long narrow facial features
• Some other rare features of this disease include
  intellectual disabilities, lung problems,
  diabetes and other immune deficiencies

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History of Bloom Syndrome
Bloom Syndrome was discovered in 1954 by a
dermatologist in New York named David Bloom
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How Can Bloom Syndrome Be Passed On
Bloom Syndrome is an extremely rare inherited
genetic disorder that is present because of many
breaks and rearrangements along the persons
chromosomes. This condition can be passed on
from generations, it is mast commonly found in
groups of Jewish people from Eastern European
descent
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Karyotype for someone with Bloom Syndrome
The chromosomes in a person with Bloom Syndrome
have many breaks that cause the abnormality to be
present.
Bloom Syndrome Chromosomes
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Phenotypic Effects
This syndrome causes many distinctive traits and
also cause an elevated rate of sister chromatid
exchange which usually occurs during cell
production and division The most common
physical characteristics of this disorder
are Facial rashes and long facial
features High pitched voice Weak immune
system Chance of mental health issues
Sensitivity to the sun Growth deficiencies
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How is it Diagnosed and Treated???
Bloom syndrome is diagnosed when the symptoms of
the disorder are present and testing is ordered
as a result. The diagnosis is confirmed through
genetic testing and analysis of chromosomes, when
a specific genetic mutation or a high rate of
sister chromatid exchange is present then Bloom
Syndrome is confirmed. There is no cure for
this disorder, it is treated through
nutritional monitoring (to ensure maximum
growth) Avoiding the sun in order to protect
the persons skin Protection from infection due
to their weak immune system
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Pictures
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Bibliography
http//ghr.nlm.nih.gov/conditionbloomsyndrome htt
p//www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?bookge
nepartbloom http//emedicine.medscape.com/articl
e/1110271-overview http//www.madsci.org/posts/arc
hives/2000-08/967264433.Ge.r.html http//www.sprin
gerlink.com/content/u8517362036h2506/ http//www.n
cbi.nlm.nih.gov80/pmc/articles/PMC554543/