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 language | English (US) |
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Pages (from-to) | 285-288 |
Number of pages | 4 |
Journal | American Journal of Medical Genetics |
Volume | 77 |
Issue number | 4 |
DOIs | |
State | Published - May 26 1998 |
Keywords
- Chromosome 13
- Hirschsprung disease
- Retinoblastoma