Retinoblastoma and Hirschsprung disease in a patient with interstitial deletion of chromosome 13

Am J Med Genet. 1998 May 26;77(4):285-8. doi: 10.1002/(sici)1096-8628(19980526)77:4<285::aid-ajmg7>;2-m.


Retinoblastoma is a rare pediatric malignancy (1/20,000) while Hirschsprung disease is a relatively common pediatric disorder (1/5,000). We describe a boy with bilateral retinoblastoma, Hirschsprung disease, multiple minor anomalies, and an interstitial deletion 13q (q13 --> q22). This child and a similar previously reported girl with retinoblastoma and Hirschsprung disease may represent a previously unrecognized contiguous gene syndrome.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Chromosome Deletion*
  • Chromosomes, Human, Pair 13*
  • Hirschsprung Disease / complications
  • Hirschsprung Disease / genetics*
  • Humans
  • Infant, Newborn
  • Male
  • Retinoblastoma / complications
  • Retinoblastoma / genetics*