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

共 82 条

[51]

MEIERRUGE WA, 1995, PEDIATR SURG INT, V10, P447

[52] FAMILIAL ASPECTS OF HIRSCHSPRUNGS-DISEASE [J].

MOORE, SW ;

RODE, H ;

MILLAR, AJW ;

ALBERTYN, R ;

CYWES, S .

EUROPEAN JOURNAL OF PEDIATRIC SURGERY, 1991, 1 (02) :97-101

[53]

MOORE SW, 1993, PEDIATR SURG INT, V8, P406

[54] HIRSCHSPRUNGS-DISEASE DISCORDANT IN MONOZYGOTIC TWINS - STUDY OF POSSIBLE ENVIRONMENTAL-FACTORS IN THE PRODUCTION OF COLONIC AGANGLIONOSIS [J].

MOORE, TC ;

LANDERS, DB ;

LACHMAN, RS ;

AMENT, ME .

JOURNAL OF PEDIATRIC SURGERY, 1979, 14 (02) :158-161

[55]

OKAMOTO E, 1967, Journal of Pediatric Surgery, V2, P444, DOI 10.1016/S0022-3468(67)80086-1

[56] QUANTITATIVE AND QUALITATIVE-ANALYSIS OF THE EXTRACELLULAR-MATRIX PROTEIN, LAMININ, IN HIRSCHSPRUNGS-DISEASE [J].

PARIKH, DH ;

TAM, PKH ;

LLOYD, DA ;

VANVELZEN, D ;

EDGAR, DH ;

CANIANO, D ;

DONAHOE, PK ;

PARIKH, DH .

JOURNAL OF PEDIATRIC SURGERY, 1992, 27 (08) :991-996

[57]

PARIKH DH, 1991, BRIT J SURG, V78, P756

[58] GENETICS OF HIRSCHSPRUNGS DISEASE - EVIDENCE FOR HETEROGENEOUS ETIOLOGY AND A STUDY OF 63 FAMILIES [J].

PASSARGE, E .

NEW ENGLAND JOURNAL OF MEDICINE, 1967, 276 (03) :138-+

[59] ABLATION OF VARIOUS REGIONS WITHIN THE AVIAN VAGAL NEURAL CREST HAS DIFFERENTIAL-EFFECTS ON GANGLION FORMATION IN THE FOREGUT, MIDGUT AND HINDGUT [J].

PETERSVANDERSANDEN, MJH ;

KIRBY, ML ;

GITTENBERGERDEGROOT, A ;

TIBBOEL, D ;

MULDER, MP ;

MEIJERS, C .

DEVELOPMENTAL DYNAMICS, 1993, 196 (03) :183-194

[60] SOX10 mutations in patients with Waardenburg-Hirschsprung disease [J].

Pingault, V ;

Bondurand, N ;

Kuhlbrodt, K ;

Goerich, DE ;

Préhu, MO ;

Puliti, A ;

Herbarth, B ;

Hermans-Borgmeyer, I ;

Legius, E ;

Matthijs, G ;

Amiel, J ;

Lyonnet, S ;

Ceccherini, I ;

Romeo, G ;

Smith, JC ;

Read, AP ;

Wegner, M ;

Goossens, M .

NATURE GENETICS, 1998, 18 (02) :171-173

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