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

被引：4

作者：

Valioulis, I ^{[1
]}

Aubert, D ^{[1
]}

de Billy, B ^{[1
]}

Bawab, F ^{[1
]}

Karam, R ^{[1
]}

机构：

[1] Univ Besancon, Hop St Jacques, Dept Pediat Surg, Serv Chirurg Pediat, F-25030 Besancon, France

来源：

EUROPEAN JOURNAL OF PEDIATRIC SURGERY | 2000年 / 10卷 / 03期

关键词：

Hirschsprung's disease; genetics; intestinal neuronal dysplasia;

D O I：

10.1055/s-2008-1072360

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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.

引用

页码：207 / 211

页数：5

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