Abstract
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 language | English (US) |
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Pages (from-to) | 8-11 |
Number of pages | 4 |
Journal | Archives of Disease in Childhood |
Volume | 62 |
Issue number | 1 |
DOIs | |
State | Published - 1987 |
Externally published | Yes |
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health