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Bloom’s syndrome is a rare genetic disorder in which the cell’s ability to maintain the integrity of DNA is impaired. This DNA instability is displayed at the chromosome level as striking increases in exchanges between chromosomes, as well as increases in chromosome gaps and breaks. The syndrome is inherited in an autosomal recessive manner, wherein both the maternally- and paternally-derived copies of the Bloom’s syndrome gene (BLM) are functionally deficient.

Bloom's syndrome is characterized by unusually small size, sensitivity to sunlight, immune-system deficiencies, and an extraordinarily high risk for developing cancer—of any type—beginning early in life. Other clinical features include chronic respiratory illness, recurrent ear infections, and diabetes. Males are infertile; females enter menopause prematurely. There are fewer than 200 known surviving cases of Bloom's syndrome worldwide. Lifespan is limited; the average age of death is 27 years. The most common cause of death is from cancer.

Definition of "autosomal recessive" from

A genetic condition that appears only in individuals who have received two copies of an autosomal gene, one copy from each parent. The gene is on an autosome, a nonsex chromosome. The parents are carriers who have only one copy of the gene and do not exhibit the trait because the gene is recessive to its normal counterpart gene.

If both parents are carriers, there is a 25% chance of a child inheriting both abnormal genes and, consequently, developing the disease. There is a 50% chance of a child inheriting only one abnormal gene and of being a carrier, like the parents, and there is a 25% chance of the child inheriting both normal genes.

BSA Blog

2016 Bianco Family's Fundraiser

Second annual fundraiser in memory of Vanessa Bianco and for the benefit of all individuals and families affected by Bloom’s syndrome. All proceeds from the 2016 campaign will go to Bloom’s Syndrome Association in support of its mission.

For more information and to make a donation, please visit the CrowdRise webpage for the 2016 Bianco Family's Fundraiser.

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