A complex chromosomal rearrangement associated with Hirschsprung's disease. A case report with a review of the literature.
The authors present a de novo complex chromosomal rearrangement 46,XY,t(2q;3p;4q;13q) associated with Hirschsprung's disease. They review the literature concerning genetic aspects of Hirschsprung's disease focusing on genetic studies and recent molecular research. Genetic aspects of intestinal neuronal dysplasia are also briefly discussed.
Valioulis
I
I
Department of Pediatric Surgery, St Jacques Hospital, University of Besançon, France.
Aubert
D
D
de Billy
B
B
Bawab
F
F
Karam
R
R
D000015:Abnormalities, Multiple; D002869:Chromosome Aberrations / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13; D002889:Chromosomes, Human, Pair 2; D002893:Chromosomes, Human, Pair 3; D002894:Chromosomes, Human, Pair 4; D005260:Female; D006627:Hirschsprung Disease / Q000453:epidemiology / Q000235:genetics* / Q000601:surgery; D006801:Humans; D007231:Infant, Newborn; D008297:Male