Deletions of the esterase D locus from a survey of 200 retinoblastoma patients.
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.
D000328:Adult; D043182:Carboxylesterase; D002265:Carboxylic Ester Hydrolases / Q000172:deficiency / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002901:Chromosomes, Human, 13-15; D004912:Erythrocytes / Q000201:enzymology; D005134:Eye Neoplasms / Q000201:enzymology / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D012175:Retinoblastoma / Q000201:enzymology / Q000235:genetics*
D002265:Carboxylic Ester Hydrolases; D043182:Carboxylesterase; C020118:ESD protein, human