Bloom's Syndrome
Causes
- Changes in the gene (BLM). BLM is responsible for copying and repairing cells.
Life Expectancy and Diagnosis
- What you can look for in to see if the person has Bloom's syndrome, is to see breaks in individual chromosome's.
- Bloom's syndrome, currently has no cure,and the life expectancy is at age 27.
Detection
- You can detect it by going to the doctor and see if you have the symptoms.
- chromosome testing, or testing of the Blooom's syndrome gene.
How Common it is
- 1 and 110 is the carrier frequency
- 98% of Ashkengzi Jewish people, are carriers
- It is an autosomal reccesive disorder
- It is not sex linked so you have to inherit this disease by both parents.
Symptoms
- You have little body fat
- In some cases, you have mild mental retardation
- Sensitive to sunlight
