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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