Separation of retinoblastoma and esterase D loci in a patient with sporadic retinoblastoma and del(13)(q14.1q22.3)

Hum Genet. 1984;68(3):258-9. doi: 10.1007/BF00418397.


A chromosome 13 deletion in a patient with sporadic retinoblastoma appears to have separated the loci for retinoblastoma and esterase D. This study indicates that: (1) the retinoblastoma locus is distinct from the esterase D locus; and (2) the linear order of these genes is centromere-esterase D-retinoblastoma.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Carboxylesterase*
  • Carboxylic Ester Hydrolases / genetics*
  • Child, Preschool
  • Chromosome Deletion
  • Chromosome Mapping
  • Chromosomes, Human, 13-15*
  • Female
  • Genetic Linkage
  • Hirschsprung Disease / genetics
  • Humans
  • Retinoblastoma / enzymology
  • Retinoblastoma / genetics*


  • Carboxylic Ester Hydrolases
  • Carboxylesterase
  • ESD protein, human