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Digitale Medien

Deletion of chromosome region 13q14 is transmissible and does not always predispose to retinoblastoma (1988)

Cowell, John K. ; Rutland, Paul ; Hungerford, John ; [weitere]

Springer

Human genetics 〈Berlin〉 80 (1988), S. 43-45

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Details

ISSN: 1432-1203

Quelle: Springer Online Journal Archives 1860-2000

Thema: Biologie , Medizin

Notizen: 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.

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1007/BF00451453

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