Deletion of chromosome region 13q14 is transmissible and does not always predispose to retinoblastoma

Hum Genet. 1988 Sep;80(1):43-5. doi: 10.1007/BF00451453.


During routine screening of retinoblastoma patients for esterase D activity in red blood cell lysates a patient was identified with only 50% of normal enzyme activity. Chromosome analysis showed that this patient had a small deletion within chromosome region 13q14. Parental studies showed that, whereas the father had normal enzyme levels, the mother had esterase D levels which were also 50% of normal and a similar small 13q14 deletion. Ophthalmological examination failed to demonstrate any retinal abnormality in either parent. Thus we present the first case not only of the direct transmission of a 13q14 deletion within a family but also of an individual in whom the deletion has not predisposed to tumour formation.

MeSH terms

  • Cell Line
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 13*
  • Eye Neoplasms / genetics*
  • Female
  • Genes
  • Humans
  • Male
  • Pedigree
  • Phenylalanine Hydroxylase / genetics
  • Polymorphism, Genetic*
  • Polymorphism, Restriction Fragment Length*
  • Retinoblastoma / genetics*


  • Phenylalanine Hydroxylase