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Bloom syndrome is a genetic disorder that is characterized by short stature and predisposition to the development of cancer and genomic instability. Symptoms are:
• Short stature
• Scaly, infiltrated rash on the face
• High pitched voice
• Long narrow face, prominent nose and ears
• Pigmentation changes
HOW IS BLOOM SYNDROME DIAGNOSED?
A pediatrician diagnoses this by performing the following genetic tests:
1. The presence of quadriradial in cultured blood lymphocytes
2. Elevated levels of sister chromatid exchange in cells of any type
3. Mutation in the BLM gene
HOW IS BLOOM SYNDROME TREATED?
While there is no cure for the disease, there is only scope to prevent and treat its various symptoms including pulmonary conditions and other infections.
DID YOU KNOW?
Men with Bloom syndrome are usually unable to produce sperm.