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Glossary: Bloom syndrome, Masonic Cancer Center, University of Minnesota

Bloom syndrome

(… SIN-drome)

A rare, inherited disorder marked by height that is shorter than average, a narrow face with redness and a rash, a high-pitched voice, and fertility problems. Patients with this disorder have an increased risk of cancer, especially leukemia and osteosarcoma (bone cancer). Bloom syndrome is caused by changes in a protein that normally helps cells make copies of the DNA. Changes in this protein cause many breaks, rearrangements, and other mutations in the DNA. It is a type of autosomal recessive genetic disease. Also called Bloom-Torre-Machacek syndrome.

2010-06-04