Additional Sources of Information about Bloom’s Syndrome

Medical and Scientific Publications

  • German, J.: Bloom’s syndrome. I. Genetical and clinical observations in the first twenty-seven patients. Amer. J. Hum. Genet. 21:196-227, 1969.
  • Chaganti, R. S. K., Schonberg, S., and German, J.: A manyfold increase in sister chromatid exchanges in Bloom’s syndrome lymphocytes. Proc. Natl. Acad. Sci.USA 71:4508-4512, 1974.
  • Passarge, E.: Bloom’s syndrome: the German experience. Ann. Génét. 34:179-197, 1991.
  • German, J.: Bloom syndrome: A mendelian prototype of somatic mutational disease. Medicine 72:393-406, 1993.
  • Ellis, N.A., Groden, J., Ye, T.-Z., Straughen, J., Lennon, D.J., Ciocci, S., Proytcheva, M., and German, J.: The Bloom’s syndrome gene product is homologous to RecQ helicases. Cell 83:655-666, 1995.
  • German, J., Ellis, N. A., and Proytcheva, M.: Bloom’s syndrome. XIX. Cytogenetic and population evidence for genetic heterogeneity. Clin. Genet. 49:223-231, 1996.
  • German, J.: Bloom’s syndrome. XX. The first 100 cancers. Cancer Genet. Cytogenet. 93:101-107, 1997.
  • Sanz, M.M., Proytcheva, M., Ellis, N. A., Holloman, W. K., and German, J.: BLM, the Bloom’s syndrome protein varies during the cell cycle in its amount, distribution, and co-localization with other nuclear proteins. Cytogenet. Cell Genet. 91:217-223, 2000.
  • German, J. and Ellis, N. A.: Bloom syndrome. In The Metabolic and Molecular Bases of Inherited Disease, 8th Edition (eds. Schriver, C. R., Beaudet, A. L., Sly, W. S., and Valle, D.), McGraw-Hill, Inc., N.Y., pp. 733-752, 2001.
  • German, J. and Ellis, N. A.: Bloom syndrome. In The Genetic Basis of Human Cancer, 2nd Edition (eds. Vogelstein, B. and Kinzler, K. W.), McGraw-Hill, N. Y., pp. 267-288, 2002.
  • German, J., Sanz, M., Ciocci, S., Ye, T. Z., and Ellis, N. A.: Syndrome-causing mutations of BLM in persons in the Bloom’s Syndrome Registry. Hum. Mutation Online, 1-11, 2007; Hum. Mutation 28:743-753, 2007.

On the Internet

  • Sanz M. M. and German J. Bloom's Syndrome. In: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2006. Available at

From the Registry

A concise description of BSyn in non-medical, non-scientific terms has been prepared by the registrars and can be obtained without charge by contacting Dr. German or Dr. Sanz.


Financial support for the study of Bloom’s syndrome between 1964 and 2003 was from the National Institutes of Health and the American Cancer Society. Currently maintenance of the Registry is supported by private endowments and the following:

The Bloom's Syndrome Foundation
7095 Hollywood Blvd. #583
Los Angeles, CA 90028
The New York Community Trust
909 Third Avenue
New York, N.Y. 10022
Tel. 212/686-0010

The registrars welcome your comments and questions.

Top of page