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.
If suspected clinically, the diagnosis of Bloom syndrome is confirmed by cytogenetic analysis showing increased numbers of sister chromatid exchanges or quadriradial configurations in lymphocytes or fibroblasts. The targeted mutational analysis may also be performed.
About Bloom syndrome
Population Estimate:Fewer than 50,000 people in the U.S. have thisdisease. Symptoms:May start to appear during Pregnancy and as a Newborn. Cause:This disease has more than one possible cause.
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.
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. They should also make an effort to avoid infection of all kinds.
The risk for two carrier parents to both pass down the disease-causing gene and therefore to have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents is 25%.
Transmission is autosomal recessive. Genetic counseling should be offered to at-risk couples (both individuals are carriers of a disease-causing mutation) informing them that there is a 25% risk of having an affected child at each pregnancy.
Males are infertile; females enter menopause prematurely. There are fewer than 200 known surviving cases of Bloom syndrome worldwide. Lifespan is limited; the average age of death is 27 years.
Bloom syndrome is an autosomal-recessive disease caused by mutations in the BLM gene. 1 An individual who inherits one BLM mutation is a carrier and is not expected to have related health problems. An individual who inherits two BLM mutations, one from each parent, is expected to be affected with Bloom syndrome.
Carriers. Experts estimate that around one in 100 Ashkenazi Jewish individuals are carriers of the disease. 4 A carrier has one copy of the gene mutation, meaning they do not develop the disease themselves, but can pass the gene mutation on to children.
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.
In 1954, David Bloom, a dermatologist in New York City, reported the cases of three children with short stature and telangiectatic erythema, and noted that the cause was likely a genetic syndrome (Bloom 1954).
The predisposition stands out in three ways: Cancers develop at the same sites at which they develop in persons in the general population, and they include the common types—leukemias, lymphomas, and carcinomas.
The oldest person in the Bloom Syndrome Registry is 50, and there are not so many who have reached 40. Consequently, we still have a general paucity of information about Bloom syndrome over 40.
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.
Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance. The syndrome is usually diagnosed during childhood, at a median age of 4 years.
Today, we have genetic tests that enable us to find out if we are carriers of recessive diseases. When both partners are carriers of the same disease, the risk of descendants developing that disease is 25% for each pregnancy.
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.
Females with one copy of the mutated gene are considered to be carriers and may or may not develop physical symptoms of the disease. In rare circumstances, the second X chromosome can be inactive, causing a carrier to have the full condition.
Stone Man's Disease
This unusual and rare disease transforms a person's muscle tissues into bones. This disease is also called fibrodysplasia ossificans progressiva (FOP).
The condition was discovered and first described by New York dermatologist Dr. David Bloom in 1954. Bloom syndrome has also appeared in the older literature as Bloom–Torre–Machacek syndrome.
Some scientists have said that Bloom syndrome is a progeroid syndrome, that is, persons with Bloom syndrome age prematurely compared to the average person.
There are over 10,000 human disorders caused by a change, known as a mutation, in a single gene. Individually, single gene disorders are each very rare, but as a whole, they affect about one per cent of the population.