1. BLOOM SYNDROME by: Melissa Lichtman

2. 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

3. History of Bloom Syndrome *Bloom Syndrome was discovered in 1954 by a dermatologist in New York named David Bloom

4. 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

5. Bloom Syndrome Chromosomes *The chromosomes in a person with Bloom Syndrome have many breaks that cause the abnormality to be present. Karyotype for someone with Bloom Syndrome

6. 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

7. 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

8. Pictures

9. 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/