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Bloom Syndrome

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Bloom Syndrome - Page Text Content

S: Bloom Syndrome

BC: Citations | syndrome/intro.htm | Future: The gene for Bloom Syndrome, located on chromosome 15, was recently isolated. One particular mutation tn the gene has been identified as the cause of Bloom's syndrome in the vast majority of Ashkenazi Jews. Screening for Bloom's Syndrome is available now because of these recent findings, and perhaps a cure will also be found in the future.

FC: Bloom Syndrome | By: Suzana Atangan 3B

1: Was discovered by a New York dermatologist named, Dr. David Bloom in 1954.

2: Is a very rare inherited genetic disorder, caused by a gene that doesn't function properly. Which creates an unusually high number of breaks or instability along their chromosomes. This instability causes short stature, immune system deficiencies leading to frequent respiratory and bronchial infections, patchy facial skin colorations, sensitivity to sunlight, sterility, and an extraordinary high risk to develop many cancers and leukemia, at early ages. | Bloom Syndrome

3: Also know as Bloom Torre Machacek Syndrome or Cogenital Telangiectatic Erythema.

4: CASE REPORT: A 12 year old girl was referred because of short stature. She was the second child of the first cousin marriage. She had a slender body frame, short stature, and microcephaly. Her face was long and narrow with a prominent nose, and malar and mandibular hypoplasia. The spots of hyper and hypo pigmented were observed in the trunk and limbs. Telangectasia spots were observed in some areas of the trunk. Additionally, generalized hirsutism was present in the whole body. Cytogenetic findings revealed and abnormality in the structural chromosome. CONCLUSION: This is the first BS case that has been reported in Iranian female population. | First Case | Reference:

6: The disease is inherited in an autosmal pattern - meaning that both copies of the gene in each cell have mutations (one from each parent). Thereby demonstrating that each partner is heterozygous. Is a recessive gene and is located on chromosome 15. If a person has one affected gene, he or she is a carrier; and if both, then there is a 1/4 chance of having an affected child with each pregnancy. | Cause

8: A very rare disorder in most populations and over 170 individuals have been recognized as being affected. More common in people of Central and Eastern European (Ashkenazi) Jewish background, among whom about 1 in 50,000 are affected. Approximately one-third of people with Bloom syndrome are of Ashkenazi Jewish descent and at least 1 in 100 Ashkenazi Jews is a carrier of the disease. Is often classified as a Jewish Genetic Disorder. It appears to be slightly more common in males than females and can be affected with cancer at any age. | How common/who's affected?

10: Symptoms | Are fetal growth retardation, short stature, mild microcephaly, long head, malar hypoplasia, small nose, Lymphoma, facial telangiectatic erythema, hyperpigmented patches, hypopigmented patches, sun-sensitive butterfly shaped face rash, infant feeding problems, Gastrointestinal adenocarcinoma, spermatogenesis, male infertility, and female subfertility.

12: When exposed to the sun, a Bsyn patient will develop patches of reddened skin that resembles the shape of a butterfly across the nose and cheeks. People with Bloom Syndrome are shorter than others in their family. | People with Bloom Syndrome

14: No specific treatment and no cure. But, avoidence of sun exposure and usage of sunscreen can help prevent some of the cutaneous changes associated with it. Efforts to minimize exposure to other known environmental mutagens is also recommended. | Treatment

16: Are more likely to get infections, leukemia, pneumonia; and are at a very high risk of cancer, usually seen early in life. Some people experience neoplasm and those who survive beyond their twenties often develop tumors and in their mid thirties, Tumors are sensitive to both chemotherapy and radiotherapy. As they get older their immunity to infections increases along with their photosensitivity. | Prognosis

18: The foundation's goal is to fund research aiming at the development of a therapy for Bloom's Syndrome and the prevention of its complications, primarily the significant risk of developing cancers at early ages. The foundation seeks financial assistance from institutions and individuals. Approximately 95% of all funds raised by the BSF go directly to the scientific grants that they fund. There overhead is minimal. | Bloom Syndrome Foundation | Reference: | Dr. James German and Dr. Maureen Sanz created this website to share information about their Bloom's Syndrome Registry. Which continues to conduct research and organize data from their many years studying the disorder and meeting with individuals.

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  • By: Suzana A.
  • Joined: almost 6 years ago
  • Published Mixbooks: 3
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About This Mixbook

  • Title: Bloom Syndrome
  • My 3B Biology class project and presentation about the disease (genetic mutation), Bloom's Syndrome. Filled with information and what I found out about it.
  • Tags: Bloom Syndrome, education, project, information, etc, biology, disease, genetic mutation, history
  • Published: over 5 years ago