A Case of Pure Red Cell Aplasia with a High Incidence of Spontaneous Chromosome Breakage: a Possible X-ray Sensitive Syndrome

Overview

Journal Hum Genet

Specialty Genetics

Date 1980 Jan 1

PMID 7203468

Authors

O Iskandar

M J Jager

R Willenze

A T Natarajan

Affiliations

Soon will be listed here.

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.

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