A complex chromosomal rearrangement associated with Hirschsprung's disease- A case report with a review of the literature

Authors
Valioulis, I Aubert, D de Billy, B Bawab, F Karam, R
Citation
I. Valioulis et al., A complex chromosomal rearrangement associated with Hirschsprung's disease- A case report with a review of the literature, EUR J PED S, 10(3), 2000, pp. 207-211
Citations number
80
Categorie Soggetti
Pediatrics
Journal title
EUROPEAN JOURNAL OF PEDIATRIC SURGERY
ISSN journal
09397248 → ACNP
Volume
10
Issue
3
Year of publication
2000
Pages
207 - 211
Database
ISI
SICI code
0939-7248(200006)10:3<207:ACCRAW>2.0.ZU;2-I
Abstract
The authors present a de novo complex chromosomal rearrangement 46,XY,t(2q; 3p;4q;13q) associated with Hirschsprung's disease. They review the literatu re concerning genetic aspects of Hirschsprung's disease focusing on genetic studies and recent molecular research. Genetic aspects of intestinal neuro nal dysplasia are also briefly discussed.