The full content of Annals is available to subscribers

Subscribe/Learn More  >
Case Reports |

Chromosomal Aberrations in Two Cases of Inherited Aplastic Anemia with Unusual Clinical Features

Ann Intern Med. 1969;71(1):107-117. doi:10.7326/0003-4819-71-1-107
Text Size: A A A

Two brothers had aplastic anemia similar to Fanconi anemia but without associated congenital abnormalities. Both had mild clinical courses and prolonged response to androgen therapy, one had persistent remission for 3 years after therapy. Cultured peripheral lymphocytes of both patients showed a high prevalence of chromosomal breaks characteristic of Fanconi anemia. Electron microscopy did not show a morphologic basis for the chromosomal breaks. One brother had a stable translocation chromosome in bone marrow erythroid and myeloid cells. The other's cultured skin fibroblasts showed an increased susceptibility to "malignant" transformation by SV40 virus, a finding also characteristic of Fanconi anemia.

Skin fibroblasts from the normal mother and a normal sister showed an increased susceptibility to "malignant" transformation, suggesting that this test may provide a means of detecting the heterozygous carrier state. Since the patients studied could not be diagnosed as having Fanconi anemia on clinical grounds alone but did appear to represent a variant of the disease on the basis of chromosomal analysis and viral transformation studies, these tests may prove to be useful in distinguishing Fanconi-type anemia from other familial aplastic anemias and in predicting response to therapy.





Citing articles are presented as examples only. In non-demo SCM6 implementation, integration with CrossRef’s "Cited By" API will populate this tab (http://www.crossref.org/citedby.html).


Submit a Comment
Submit a Comment

Summary for Patients

Clinical Slide Sets

Terms of Use

The In the Clinic® slide sets are owned and copyrighted by the American College of Physicians (ACP). All text, graphics, trademarks, and other intellectual property incorporated into the slide sets remain the sole and exclusive property of the ACP. The slide sets may be used only by the person who downloads or purchases them and only for the purpose of presenting them during not-for-profit educational activities. Users may incorporate the entire slide set or selected individual slides into their own teaching presentations but may not alter the content of the slides in any way or remove the ACP copyright notice. Users may make print copies for use as hand-outs for the audience the user is personally addressing but may not otherwise reproduce or distribute the slides by any means or media, including but not limited to sending them as e-mail attachments, posting them on Internet or Intranet sites, publishing them in meeting proceedings, or making them available for sale or distribution in any unauthorized form, without the express written permission of the ACP. Unauthorized use of the In the Clinic slide sets will constitute copyright infringement.


Buy Now

to gain full access to the content and tools.

Want to Subscribe?

Learn more about subscription options

Related Articles
Related Point of Care
Topic Collections
PubMed Articles
Human telomeres and telomere biology disorders. Prog Mol Biol Transl Sci 2014;125():41-66.
Forgot your password?
Enter your username and email address. We'll send you a reminder to the email address on record.