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
B J
BJ
Department of Pediatrics, University of Minnesota, Minneapolis 55455, USA.
Pierpont
M E
ME
Young
T L
TL
Mutchler
S B
SB
Neglia
J P
JP
D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13; D006627:Hirschsprung Disease / Q000150:complications / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012175:Retinoblastoma / Q000150:complications / Q000235:genetics*