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

TitleA complex chromosomal rearrangement associated with Hirschsprung's disease. A case report with a review of the literature.
Publication TypeJournal Article
Year of Publication2000
AuthorsValioulis, I., Aubert D., de Billy B., Bawab F., & Karam R.
JournalEur J Pediatr Surg
Volume10
Issue3
Pagination207-11
Date Published2000 Jun
ISSN0939-7248
KeywordsAbnormalities, 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.

DOI10.1055/s-2008-1072360
Alternate JournalEur J Pediatr Surg
PubMed ID10982055

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