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Bloom syndrome is an autosomal recessive disease that exhibits haploinsufficiency. A recent survey showed that people heterozygous for mutations at the BLM locus are at increased risk of colon cancer. Suppose you are a genetic counselor. A young woman is referred to you whose mother has Bloom syndrome; the young woman's father has no family history of Bloom syndrome. The young woman asks whether she is likely to experience any other health problems associated with her family history of Bloom syndrome. What advice would you give her?
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Bloom syndrome is an autosomal recessive disease that exhibits haploinsufficiency. A recent survey s...
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