Ashkenazi Disorders: Mendelian

Bloom Syndrome

Bloom syndrome is a condition which is inherited in a recessive fashion. The gene responsible in this disorder is involved in the copying and repair of the genetic information in the cells of the body. The most serious characteristics of this condition are a predisposition to cancer and infections. Intelligence is typically normal in this disorder although mild mental retardation has been reported in some cases. No effective treatment is available at this time. The mean age of death is 27 years of age and is usually related to cancer.

Disease frequency:Unknown
Carrier frequency:Estimated to be about 1 in 100 in those of Jewish ancestry
Diagnosis:By a physician knowledgeable about the symptoms of this disorder, by specialized chromosome testing, or testing of the Bloom syndrome gene.
Inheritance:Autosomal Recessive
Carrier testing:Available by testing of the Bloom syndrome gene. Testing can identify about 97 – 98% of the Ashkenazi Jewish carriers.
Prenatal diagnosis:Available to those with a previously affected child or to couples identified as carriers by DNA testing.

Technical Information on Bloom Syndrome

Additional Information:
James L. German III, MD
The New York Blood Center
Laboratory of Molecular Genetics
310 East 67th Street
New York, NY 10021
(212) 570-3075 (voice)