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Deletions of the esterase D locus from a survey of 200 retinoblastoma patients |
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| Authors: | J. K. Cowell P. Rutland Marcelle Jay J. Hungerford |
| Affiliation: | (1) ICRF Laboratory of Molecular Genetics in the Department of Haematology and Oncology, Institute of Child Health, 30 Guilford Street, WC1 London, UK;(2) Mothercare Unit of Paediatric Genetics, Institute of Child Health, 30 Guilford Street, WC1 London, UK;(3) Department of Clinical Ophthalmology, Moorfields Eye Hospital, City Road, EC1 London, UK;(4) Department of Ophthalmology, St. Bartholomew's Hospital, West Smithfield, WC1 London, UK |
| Abstract: | Summary Esterase D levels from 200 retinoblastoma patients have been measured in an attempt to identify individuals carrying deletions of chromosome region 13q14. In this series 75% had bilateral tumours and 23% were familial. Of nine patients identified as having low esterase D levels, five had not previously been diagnosed as deletion carriers. These observations demonstrate the benefit of screening retinoblastoma populations for esterase D deficiency. |
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