Summary
During routine screening of retinoblastoma patients for esterase D activity in red blood cell lysates a patient was identified with only 50% of normal enzyme activity. Chromosome analysis showed that this patient had a small deletion within chromosome region 13q14. Parental studies showed that, whereas the father had normal enzyme levels, the mother had esterase D levels which were also 50% of normal and a similar small 13q14 deletion. Ophthalmological examination failed to demonstrate any retinal abnormality in either parent. Thus wer present the first case not only of the direct transmission of a 13q14 deletion within a family but also of an individual in whom the deletion has not predisposed to tumour formation.
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Cowell, J.K., Rutland, P., Hungerford, J. et al. Deletion of chromosome region 13q14 is transmissible and does not always predispose to retinoblastoma. Hum Genet 80, 43–45 (1988). https://doi.org/10.1007/BF00451453
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DOI: https://doi.org/10.1007/BF00451453