Author(s): Weigel BJ, Pierpont ME, Young TL, Mutchler SB, Neglia JP. Retinoblastoma and Hirschsprung disease in a patient with interstitial deletion of chromosome 13. Am J Med Genet. 1998 May 26;77(4):285-8. Review.
Journal: American Journal Of Medical Genetics, Volume 77, Issue 4, May 1998
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.