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

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

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 23 KB
Volume: 77
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980526)77:4<285::aid-ajmg7>3.0.co;2-m

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✦ Synopsis

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. Am.

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