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

John K. Cowell, Paul Rutland, John Hungerford, Marcelle Jay

Research output: Contribution to journalArticle

13 Scopus citations

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 languageEnglish (US)
Pages (from-to)43-45
Number of pages3
JournalHuman Genetics
Volume80
Issue number1
DOIs
StatePublished - Sep 1 1988
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Deletion of chromosome region 13q14 is transmissible and does not always predispose to retinoblastoma'. Together they form a unique fingerprint.

  • Cite this