Bloom Syndrome

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**Introduction: What is Bloom syndrome?**
Bloom syndrome is also known as Bloom-Torre-Machacek syndrome. It is a rare autosomal recessive disorder characterized by short stature, predisposition to the development of cancer, and genomic instability. This syndrome also gives you a red rash on the face as soon as you are exposed to the sun. Small clusters of enlarged blood vessels often appear in the rash. These blood vessels can also appear in the eyes. Also, the pigment of your face changes color and there are different patches of skin color all over the body.

Symptoms:

 * Prenatal and postnatal growth deficiency; which may be the only symptom present at birth.
 * Feeding difficulties in infancy.
 * Gastrointestinal re-flux.
 * Red (butterfly shaped) rashes that appear after sunlight exposure.
 * Immunodeficiency
 * Learning problems
 * Infertility in males and early menopause in females.
 * Serious medical complications like; chronic obstructive pulmonary disease and diabetes.
 * Also a high risk of getting cancer around the age of 26.

How is it inherited?
- It is an autosomal-recessive disease caused by mutations in the BLM gene. BLM is known as RECQL3. If you inherit the BLM mutation, then you ar e a "carrier" but you aren't expected to have health problems. If you inherit two of these mutations from both parents, then you are said to have Bloom syndrome. If both parents have the gene, it is recommended to get tests done because there is a 25% chance for all pregnancies.

Molecular Basis:
- The molecular basis of this syndrome is the BLM gene that was listed and explained above. This specific gene is the only gene to has proven to cause the Bloom syndrome. The gene itself is mutated from the genes of the parents/carriers. There are very few people known to have had his syndrome without the mutation of this BLM gene. This gene is supposed to maintain healthy cell act ivity.

Videos:
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Works Cited:
https://www.labcorp.com/wps/wcm/connect/IntGeneticsLib/integratedgenetics/resources/diseases/bloom+syndrome?Bloom%20Syndrome http://www.ncbi.nlm.nih.gov/books/NBK1398/