Retinoblastoma and Hirschsprung disease in a patient with interstitial deletion of chromosome 13
BJ Weigel, MEM Pierpont, TL Young… - American journal of …, 1998 - Wiley Online Library
BJ Weigel, MEM Pierpont, TL Young, SB Mutchler, JP Neglia
American journal of medical genetics, 1998•Wiley Online LibraryRetinoblastoma 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. J. Med. Genet. 77: 285–288, 1998.© 1998 Wiley‐Liss, Inc.
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. J. Med. Genet. 77: 285–288, 1998.© 1998 Wiley‐Liss, Inc.
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. Am. J. Med. Genet. 77:285–288, 1998. © 1998 Wiley‐Liss, Inc.
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