Abstract
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.
Original language | English (US) |
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Pages (from-to) | 43-45 |
Number of pages | 3 |
Journal | Human Genetics |
Volume | 80 |
Issue number | 1 |
DOIs | |
State | Published - Sep 1988 |
Externally published | Yes |
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)