Causes. 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. The causative gene has been mapped to chromosomal location 15q26.
How do you treat Bloom syndrome?
Although there is currently no treatment aimed at the underlying genetic abnormality, persons with Bloom’s syndrome benefit from sun protection , aggressive treatment of infections, surveillance for insulin resistance, and early identification of cancer.
Is Bloom syndrome a cancer?
A rare, inherited disorder marked by shorter than average height, a narrow face, a red skin rash that occurs on sun-exposed areas of the body, and an increased risk of cancer . The rash usually occurs on the face, arms, and back of the hands.
What does it mean to be a carrier of Bloom syndrome?
Bloom syndrome is known as an autosomal recessive condition. For autosomal recessive conditions, if a person has a variation in one copy of their gene, they are a carrier . This means that they are healthy because they also have a working copy of the gene. But, they can still pass their non-working copy to their child.
What is the cause of Bloom syndrome?
Causes. 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. The causative gene has been mapped to chromosomal location 15q26.
Can Bloom syndrome be prevented?
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.
How long can a person with Bloom syndrome live?
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How do you test for Bloom syndrome?
The diagnosis of Bloom syndrome (congenital telangiectatic erythema) can be confirmed or excluded by a laboratory test known as a chromosome study ; blood and skin cells show a characteristic pattern of chromosome breakage and rearrangement.
Is Bloom syndrome more common in males or females?
Bloom syndrome is more common in eastern European Ashkenazi Jews. At least 1 in 100 Ashkenazi Jews is a carrier of the disease. It appears to be slightly more common in males than females .
How was Bloom syndrome discovered?
Bloom syndrome (congenital telangiectatic erythema) is a rare autosomal recessive disorder. It was first described in 1954 by David Bloom in a series of patients with telangiectatic erythema on the face and dwarfism.
What is Watson’s disease?
Watson syndrome is an autosomal dominant condition characterized by the presence of pulmonary valvular stenosis, cafe au lait spots, and mild mental retardation . These features are also sometimes observed in neurofibromatosis type 1 (NF1). It has been suggested that Watson syndrome is caused by mutations in NF1 gene.
What are the two major causes of genetic disorders in humans?
Some people inherit genetic disorders from the parents, while acquired changes or mutations in a preexisting gene or group of genes cause other genetic diseases. Genetic mutations can occur either randomly or due to some environmental exposure.
Why do Ashkenazi have genetic diseases?
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.
Can you have an XXY chromosome?
Klinefelter syndrome is a genetic condition in which a boy is born with an extra X chromosome. Instead of the typical XY chromosomes in men, they have XXY, so this condition is sometimes called XXY syndrome.
What does Gaucher disease affect?
Gaucher disease can weaken bone, increasing the risk of painful fractures . It can also interfere with the blood supply to your bones, which can cause portions of the bone to die. Blood disorders. A decrease in healthy red blood cells (anemia) can result in severe fatigue.
What is a chromosomal disorder?
Chromosomal disorder, any syndrome characterized by malformations or malfunctions in any of the body’s systems , and caused by abnormal chromosome number or constitution.
