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Parrington 1 Danielle Dyan Parrington November 1, 2002 Dr. J. Youngblom Human Genetics TR 9:40 - 11:07p.m. Bloom's Syndrome Bloom's Syndrome (BS) is a rare autosomal recessive disorder characterized by photosensitivity, growth deficiency of prenatal onset, variable degree of immunodeficiency, and increased susceptability to neoplasms of many sites and types. Bloom's Syndrome is also known as Congenital Telangiectatic Erythema. Bloom's Syndrome is an inherited condition, which means that it is passed from parents to offspring. Bloom's Syndrome is caused by a gene that does not function properly. Individuals with Bloom's Syndrome have an unusually high number of breaks along their chromosomes. A chromosome is a structure in our body that contains DNA-genetic material. History and Background Bloom's Syndrome was first described by New York Dermatologist David Bloom in 1954. Since then, over 170 individuals have been recognized as being affected. Because Bloom's Syndrome is inherited as an autosomal recessive disease, once a couple has an affected child, there...

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