These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: A case of pure red cell aplasia with a high incidence of spontaneous chromosome breakage: a possible X-ray sensitive syndrome.
    Author: Iskandar O, Jager MJ, Willenze R, Natarajan AT.
    Journal: Hum Genet; 1980; 55(3):337-40. PubMed ID: 7203468.
    Abstract:
    A patient with a pure red cell aplasia (Blackfan-Diamond Anemia), and with many congenital abnormalities and growth retardation, has been found to have a chromosome breakage syndrome. In this patient, the frequencies of spontaneous chromosome aberrations and micronuclei in PHA stimulated peripheral blood lymphocytes are elevated when compared to those in normal individuals. The frequency of sister chromatid exchanges is within normal range. The response to mitomycin C (MMC) in the micronucleus test, using lymphocytes, shows a similar increase in the patient's lymphocytes to that in normal individuals, indicating no increased sensitivity to MMC. The frequencies of X-ray induced dicentric chromosomes and micronuclei in the peripheral blood lymphocytes are elevated in the patient. But as the patient clinically does not have any signs of ataxia telangiectasia, this combination of clinical and laboratory findings of this case does not correspond with any of the other known 'chromosome breakage' syndromes.
    [Abstract] [Full Text] [Related] [New Search]