Bloom syndrome

There is no treatment for the cause of Bloom syndrome.

However, several women with Bloom syndrome have had children.

Diabetes and problems with fertility are more common in people with Bloom syndrome.

Loss of genomic stability is also the major cause of Bloom syndrome.

Victims of Bloom syndrome most often die of cancer.

Support groups and counseling can be helpful for people with Bloom syndrome and for their families.

Bloom syndrome is inherited as an autosomal recessive genetic trait.

Genetic counseling and genetic testing is recommended for families who may be carriers of Bloom syndrome.

TOP3A has been shown to interact with Bloom syndrome protein.

Skin cancer accounts for approximately 14% of tumors in the Bloom Syndrome Registry.

Bloom syndrome is characterized by a predisposition to cancer with early onset, with a mean age-of-onset of 24 years.

Bloom syndrome (BS) is a very rare autosomal recessive disorder.

Bloom syndrome.

For example, a common microindel which results in a frameshift causes Bloom syndrome in the Japanese population.

Cells from people with Bloom syndrome have been found to have abnormal responses to UV radiation.

Cells from a person with Bloom syndrome exhibit a striking genomic instability that includes excessive homologous recombination.

There is currently no evidence to suggest that the symptoms of Bloom syndrome vary depending on the types of mutations a person inherits.

Approximately one-third of all individuals who have Bloom syndrome are of Ashkenazi Jewish descent.

A greatly elevated rate of mutation in Bloom syndrome results in a high risk of cancer in affected individuals.

Bloom syndrome causes infertility in males and reduced fertility and early-onset menopause in females.

SCE is elevated in pathologies including Bloom syndrome, having recombination rates 10-100 times above normal, depending on cell type.

German J, Ellis N: Bloom syndrome.

Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3' 5' helicase activity.

Like Bloom syndrome, Werner syndrome is characterized by spontaneous chromosomal instability, resulting in increased susceptibility to cancer and premature aging.

Clinical manifestations of Bloom syndrome include severe growth retardation, recurrent infections, diabetes, chronic pulmonary disease, and an increased susceptibility to cancers of many types.