A complex chromosomal rearrangement associated with Hirschsprung's disease. A case report with a review of the literature.
Τίτλος | A complex chromosomal rearrangement associated with Hirschsprung's disease. A case report with a review of the literature. |
Publication Type | Journal Article |
Year of Publication | 2000 |
Authors | Valioulis, I., Aubert D., de Billy B., Bawab F., & Karam R. |
Journal | Eur J Pediatr Surg |
Volume | 10 |
Issue | 3 |
Pagination | 207-11 |
Date Published | 2000 Jun |
ISSN | 0939-7248 |
Λέξεις κλειδιά | Abnormalities, Multiple, Chromosome Aberrations, Chromosomes, Human, Pair 13, Chromosomes, Human, Pair 2, Chromosomes, Human, Pair 3, Chromosomes, Human, Pair 4, Female, Hirschsprung Disease, Humans, Infant, Newborn, Male |
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 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. |
DOI | 10.1055/s-2008-1072360 |
Alternate Journal | Eur J Pediatr Surg |
PubMed ID | 10982055 |