Literature DB >> 3346886

Concurrent de novo interstitial deletion of band 2p22 and reciprocal translocation (3;7)(p21;q22).

G C Webb1, C G Keith, N T Campbell.   

Abstract

A child is described with a de novo interstitial deletion of band 2p22 and a reciprocal translocation (3;7)(p21;q22). The child has mild developmental delay, coloboma of the right eye, and Hirschsprung's disease. The clinical and cytogenetic findings are described.

Entities:  

Mesh：

Year:  1988        PMID： 3346886      PMCID： PMC1015455          DOI： 10.1136/jmg.25.2.125

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  9 in total

1.  A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus.

Authors:  A Bottani; Y G Xie; F Binkert; A Schinzel
Journal:  Hum Genet       Date:  1991-10       Impact factor: 4.132

2.  A genetic study of Hirschsprung disease.

Authors:  J A Badner; W K Sieber; K L Garver; A Chakravarti
Journal:  Am J Hum Genet       Date:  1990-03       Impact factor: 11.025

3.  Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease.

Authors:  R Gath; A Goessling; K M Keller; S Koletzko; W Coerdt; H Müntefering; S Wirth; R M Hofstra; L Mulligan; C Eng; A von Deimling
Journal:  Gut       Date:  2001-05       Impact factor: 23.059

4.  Hirschsprung's disease, distinctive facies, and microcephaly.

Authors:  A Bankier
Journal:  J Med Genet       Date:  1989-04       Impact factor: 6.318

Review 5.  Hirschsprung's disease: clinical and experimental observations.

Authors:  P Puri
Journal:  World J Surg       Date:  1993 May-Jun       Impact factor: 3.352

Review 6.  Hirschsprung's disease: genetic mutations in mice and men.

Authors:  K Robertson; I Mason; S Hall
Journal:  Gut       Date:  1997-10       Impact factor: 23.059

7.  Hirschsprung disease: paternal transmission to a son.

Authors:  H Skopnik; U Beudt; G Steinau; W Meier-Ruge; M Habedank
Journal:  Eur J Pediatr       Date:  1993-06       Impact factor: 3.183

Review 8.  The contribution of associated congenital anomalies in understanding Hirschsprung's disease.

Authors:  S W Moore
Journal:  Pediatr Surg Int       Date:  2006-03-04       Impact factor: 1.827

9.  A high-resolution genetic map of mouse chromosome 15 encompassing the Dominant megacolon (Dom) locus.

Authors:  A Puliti; M O Prehu; D Simon-Chazottes; L Ferkdadji; M Peuchmaur; M Goossens; J L Guénet
Journal:  Mamm Genome       Date:  1995-11       Impact factor: 2.957
  9 in total

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