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Bloom Syndrome

What are the characteristics of Bloom Syndrome?
High-pitched voice, long, narrow face; a small lower jaw; and prominent nose and ears,
Long stature, learning disabilities, low pitched verse
Narrow long face, learning disabilities, rash on the face
What are some symptoms of Bloom Syndrome? (check all the apply)
Changes to your endocrine system and immune system.
Developmental delays and intellectual differences.
Extreme sun sensitivity.
Frequent infections, especially ear infections and infections of your lungs
What population has the highest percentile when it come to Bloom Syndrome
Chinese
European
Jewish
African American
What is the estimated life span of someone diagnosed with Bloom Syndrome?
Who was the scientist behind Bloom Syndrome?
David Bloom
Irene Joliot
Rachel Carson
What genotype is Bloom Syndrome?
Autosomal recessive
Autosomal dominant
Heterozygous recessive
Heterozygous dominant
Besides sequence analysis of the BLM gene, what other test can be used for clinical diagnosis when there is suspicion of Bloom syndrome
Del/dup analysis
Sister chromatid exchange analysis
Methylation testing
Karyotype
Which of the following is NOT expected in someone with Bloom syndrome?
Increased risk for cancer
Intellectual disability
Short stature
Infertility
What are some ways that we can prevent Bloom syndrome
Sun protection
Infection treatment
Insulin treatment:
Nutritional support
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