Retinoblastoma and Hirschsprung disease in a patient with interstitial deletion of chromosome 13.
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.
Weigel, BJ; Pierpont, ME; Young, TL; Mutchler, SB; Neglia, JP
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