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Diseases

Genetic and Rare Diseases Information Center (GARD)

Bloom syndrome


Other Names for this Disease
  • BS
  • Bloom-Torre-Machacek syndrome
  • BLM
  • Growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability
  • BLS
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Tests & Diagnosis

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How is Bloom syndrome diagnosed?

Bloom syndrome is diagnosed by either cytogenetic analysis or mutation testing. Cytogenetic analysis is used to detect if there is an increased amount of sister chromatid exchange in cells. Genetic testing can reveal if a person has mutations in the BLM gene, which are known to cause Bloom Syndrome.[1] If an individual has a family history of Bloom syndrome, one of these two testing methods may be used to find out if the person has also inherited the condition. An unusually low birth weight and short height throughout childhood are suggestive of Bloom syndrome in an individual with an affected sibling.[2] For more information about the diagnosis of Bloom syndrome, please visit: http://www.ncbi.nlm.nih.gov/books/NBK1398/#bloom.Diagnosis
Last updated: 4/13/2012

References
  1. Bloom syndrome. Genetics Home Reference. November 2010; http://ghr.nlm.nih.gov/condition/bloom-syndrome. Accessed 3/31/2014.
  2. Maureen M Sanz, James German. Bloom's syndrome. GeneReviews. March 28, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1398/. Accessed 3/31/2014.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Other Names for this Disease
  • BS
  • Bloom-Torre-Machacek syndrome
  • BLM
  • Growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability
  • BLS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.