The need to screen all retinoblastoma patients for esterase D activity: Detection of submicroscopic chromosome deletions

J. K. Cowell, E. Thompson, P. Rutland

Research output: Contribution to journalArticle

13 Scopus citations


Roughly 5% of all patients with retinoblastoma carry a constitutional chromosome deletion on the long arm of chromosome 13, which confers a prezygotic predisposition to tumour development. As offspring of deletion carriers have a 50% risk of inheriting the predisposition locus it is important to identify deletion carriers. The site of the esterase D gene to the often deleted regions offers an objective means of deletion identification. The chromosomes of a patient with unilateral retinoblastoma, previously supposed to have a normal karyotype, were re-examined after the discovery that his red blood cells contained reduced activities of esterase D. A small sub-band deletion was found in chromosome region 13q14. These findings emphasise the importance of measurements of esterase D in all patients with retinoblastoma, even those with an apparently normal karyotype.

Original languageEnglish (US)
Pages (from-to)8-11
Number of pages4
JournalArchives of Disease in Childhood
Issue number1
StatePublished - Jan 1 1987
Externally publishedYes


ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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