Although it occurs in many ethnic groups, it is more prevalent in people of Ashkenazi Jewish heritage whose ancestors were from Poland or the Ukraine. Among Ashkenazi Jews in either New York City or Israel, the carrier frequency for Bloom syndrome is about 1 in 100.
Bloom syndrome is a rare genetic disorder characterized by impaired growth and an increased risk of infections and cancer. A person must have two variants in the BLM gene, or two copies of a variant, in order to have this condition. People with just one variant in the BLM gene are called carriers.
Bloom syndrome is rare in all populations but is most common among people of Ashkenazi (Eastern European) Jewish descent.
Carriers of Bloom syndrome do not show symptoms of the disease, but studies have shown that they are at a greater than average risk of developing cancer, particularly colon cancer.
Various mutations in what's known as the BLM gene cause Bloom syndrome, an inherited autosomal recessive disorder. This means that each parent passes down a mutated copy of the BLM gene, even if they don't show signs or symptoms of the condition.
Bloom syndrome is inherited in an autosomal recessive pattern. This means that there is a mutation of both copies of the BLM gene in people with Bloom syndrome; and each parent carries one mutant copy and one normal copy.
Bloom syndrome is caused by genetic variants in the BLM gene and is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, a clinical examination, and confirmed by the results of genetic testing.
There are fewer than 200 known surviving cases of Bloom syndrome worldwide. Lifespan is limited; the average age of death is 27 years. The most common cause of death is from cancer. A genetic condition that appears only in individuals who have received two copies of an autosomal gene, one copy from each parent.
Bloom syndrome is a rare disorder. Only a few hundred affected individuals have been described in the medical literature, about one-third of whom are of Central and Eastern European (Ashkenazi) Jewish background.
The cancers with the highest genetic contribution include breast, bowel, stomach and prostate cancers. Referral to a specialist cancer genetics service may be appropriate for people with a strong family history of cancer.
Prenatal diagnosis of Bloom syndrome is possible with amniocentesis for amniotic fluid cell culture to assess for a high number of sister chromatid exchanges; DNA analysis will be available in the near future.
Bloom syndrome, also called Bloom-Torre-Machacek syndrome or congenital telangiectatic erythema, is a rare autosomal recessive inherited disorder characterized by genomic instability and predisposition to the development of all types of cancer. Bloom syndrome is due to mutations in the BLM gene.
Researchers think Ashkenazi genetic diseases arise because of the common ancestry many Jews share. While people from any ethnic group can develop genetic diseases, Ashkenazi Jews are at higher risk for certain diseases because of specific gene mutations.
A carrier, as related to genetics, is an individual who “carries” and can pass on to its offspring a genomic variant (allele) associated with a disease (or trait) that is inherited in an autosomal recessive or sex-linked manner, and who does not show symptoms of that disease (or features of that trait).
Explanation: No, someone cannot be a carrier for a dominant disorder. Dominant genetic disorders are caused by mutations in a single copy of a gene, and the presence of the mutated gene is enough to cause the disorder. In other words, if a person has a dominant genetic disorder, they will express the disorder.
People with this disorder have an increased risk of diabetes, chronic obstructive pulmonary disease, and frequent ear and lung infections. They also have an increased risk of developing cancer at an early age, especially squamous cell skin cancer, leukemia, lymphoma, and gastrointestinal tract cancer.
Testing for Bloom syndrome may include sister chromatid exchange, known familial mutation analysis, targeted mutation analysis, sequence analysis, or deletion/duplication analysis. Once a deleterious mutation has been identified in an affected person, relatives and at- risk pregnancies can be tested.
Bloom syndrome (BSyn) overall prevalence is unknown, but in the Ashkenazi Jewish population it is estimated at approximately 1/ 48,000 births. A founder mutation, known as BLMash is present in approximately 1 in 100 persons of Ashkenazi Jewish background.
How Is Bloom Syndrome Treated? There is no cure for Bloom syndrome. Children with Bloom syndrome need nutritional monitoring to ensure maximum growth. People with the disease are advised to stay out of the sun and wear sunscreen to prevent skin lesions, particularly during childhood.
Bloom syndrome is a rare chromosomal breakage syndrome characterized by severe pre- and postnatal growth deficiency, a photosensitive facial erythema, immunodeficiency, mental retardation or learning disabilities, endocrinopathies, and a predisposition to develop a wide variety of cancers.
Fanconi anaemia (FA), ataxia telangiectasia (A-T), Nijmegen breakage syndrome (NBS) and Bloom syndrome (BS) are clinically distinct, chromosome instability (or breakage) disorders.
Once the chocolate is warm, the cocoa butter in the chocolate softens and separates from other ingredients in the chocolate. Once it rises to the surface and re-solidifies, it creates the bloom.
As a result, 1% of all Ashkenazi Jews living today inherited a defective copy of one of their BRCA2 genes. Unbeknownst to them, these carriers of the BRCA2 mutation are at increased risk for developing breast, ovarian, prostate and pancreatic cancer.
Individuals of Ashkenazi Jewish descent may carry pathogenic variants for Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, familial hyperinsulinism, Fanconi anemia C, Gaucher disease, glycogen storage disease type 1A, Joubert syndrome type 2, maple syrup urine disease type 1B, mucolipidosis IV, ...
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