Bloom's Syndrome

Bloom's Syndrome

Causes

1. 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