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  • Title: Retinoblastoma and Hirschsprung disease in a patient with interstitial deletion of chromosome 13.
    Author: Weigel BJ, Pierpont ME, Young TL, Mutchler SB, Neglia JP.
    Journal: Am J Med Genet; 1998 May 26; 77(4):285-8. PubMed ID: 9600737.
    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.
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