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Bloom Syndrome

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by

Alyssa O'Brien

on 21 March 2011

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Transcript of Bloom Syndrome

Bloom Syndrome Bloom Syndrome is an inherited disorder and is very rare. The physical traits of
Bloom Syndrome are as
follows... Small body size/
growth deficiency patchy spots on skin A small brain and head The head can be dolichocephalic...meaning that the head is elongated from the front to the back narrow and/or triangular face shape a large nose protruding ears
high pitched voice The life expectancy is 1 to 48 years with a mean of 23 years of age. the average height for an adult male is 4'9" and the average height for an adult female is 4'6" People with Bloom Syndrome are of average to low-average inteligence Normal Bloom Syndrome Karyotype This is an autosomal recessive disorder That means that both parents must contain the mutated gene The gene responsible for Bloom Syndrome is called BLM It is located on chromosome 15 mutations on the BLM gene result in a lack of stability in the chromosomes if both parents are carriers of Bloom Syndrome a prenatal diagnosis is available The measurements of the baby in the womb will be smaller than expected Bloom Syndrome can be diagnosed by a sister chromatid exchange analysis This is done by taking a blood sample and then an examination of the chromosomes in a labratory if a person does have Bloom Syndrome then the chromosomes will have a ten fold increase in sister chromatid exchange and quadriradials will occur in a higher frequency than normal Bloom Syndrome patients have an increased risk of cancer At an early age benign and cancerous tumors appear Lukemia and lymphoma are common carcinomas in the skin,cervix,breast, or colon are common as well chemotherapy and radiation treatment can lead to more damage in the chromosomes cancer is the main cause of death for people with Bloom Syndrome In the general population 1 in 6,330,000 people have Bloom Syndrome This disorder is most common in
Ashkenazi Jews and occurs in 1 in 60,000 people of this population if both parents are carriers of a mutated BLM gene then the chance of a child with Bloom Syndrome is 25% Carriers with only one copy of the mutated gene do not have an increased risk of cancer man with bloom syndrome Men with Bloom Syndrome are usually sterile and women have early menopause and trouble getting pregnant
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