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No Increased Chromosome Breakage in Three Bloom's Syndrome Heterozygotes

Overview
Journal J Med Genet
Specialty Genetics
Date 1979 Jun 1
PMID 469900
Citations 4
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Abstract

The frequency of chromosome aberrations in the lymphocytes of three established heterozygotes for the Bloom's syndrome gene (ages 67, 57, 46) was compared to that in controls (ages 68, 67, 61, 46, 34). The main part of the study was done on coded slides. No difference was found between the heterozygotes and the control group, except for one control (aged 46) who had a significantly higher number of chromosome aberrations than the others.

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Evidence for chromosome instability in vivo in Bloom syndrome: increased numbers of micronuclei in exfoliated cells.

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In vivo chromosomal instability in ataxia-telangiectasia homozygotes and heterozygotes.

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Evidence for increased in vivo mutation and somatic recombination in Bloom's syndrome.

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References
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