PT  - JOURNAL ARTICLE
AU  - J K Cowell
AU  - E Thompson
AU  - P Rutland
TI  - The need to screen all retinoblastoma patients for esterase D activity: detection of submicroscopic chromosome deletions.
AID  - 10.1136/adc.62.1.8
DP  - 1987 Jan 01
TA  - Archives of Disease in Childhood
PG  - 8--11
VI  - 62
IP  - 1
4099  - http://adc.bmj.com/content/62/1/8.short
4100  - http://adc.bmj.com/content/62/1/8.full
SO  - Arch Dis Child1987 Jan 01; 62
AB  - 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 region offers an objective means of deletion identification. The chromosomes of a patient with unilateral retinoblastoma, previously supposed to have a normal karyotype, were reexamined 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.