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

Journal Article (Journal Article;Review)

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.

Full Text

Duke Authors

Cited Authors

  • Weigel, BJ; Pierpont, ME; Young, TL; Mutchler, SB; Neglia, JP

Published Date

  • May 26, 1998

Published In

Volume / Issue

  • 77 / 4

Start / End Page

  • 285 - 288

PubMed ID

  • 9600737

International Standard Serial Number (ISSN)

  • 0148-7299

Digital Object Identifier (DOI)

  • 10.1002/(sici)1096-8628(19980526)77:4<285::aid-ajmg7>;2-m


  • eng

Conference Location

  • United States