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

Brenda J. Weigel, Mary Ella M. Pierpont, Terri L. Young, Scott B. Mutchler, Joseph P. Neglia

Research output: Contribution to journalArticlepeer-review

21 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)285-288
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume77
Issue number4
DOIs
StatePublished - May 26 1998

Keywords

  • Chromosome 13
  • Hirschsprung disease
  • Retinoblastoma

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