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Journal of Medical Genetics 1991;28:468-471; doi:10.1136/jmg.28.7.468
Copyright © 1991 by the BMJ Publishing Group Ltd.

Sister chromatid exchange evaluation as an aid to the diagnosis and exclusion of Fanconi's anaemia by induced chromosome damage analysis.

R T Howell

South Western Regional Cytogenetics Centre, Southmead Hospital, Bristol.

Evaluation of chromatid aberrations induced in culture by DNA cross linking agents provides the most reliable method currently available for the diagnosis and exclusion of Fanconi's anaemia. However, at appropriate concentrations of clastogenic agent the aberration frequency in an unaffected subject may be very low and thus it may be difficult to confirm that the treatment was effective. Data are presented to show that sister chromatid exchange analysis can be used to monitor the effectiveness of the clastogen treatment and thereby increase the reliability and efficiency of the assay.


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