BLOOM SYNDROME
by: Melissa Lichtman
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
History of Bloom Syndrome
*Bloom Syndrome was discovered in 1954
by a dermatologist in New York named
David Bloom
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
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
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
Pictures
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Bibliography
http://ghr.nlm.nih.gov/condition=bloomsyndrome
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bloom
http://emedicine.medscape.com/article/1110271-overview
http://www.madsci.org/posts/archives/2000-08/967264433.Ge.r.html
http://www.springerlink.com/content/u8517362036h2506/
http://www.ncbi.nlm.nih.gov:80/pmc/articles/PMC554543/