Literature DB >> 8335012

Hirschsprung disease: paternal transmission to a son.

H Skopnik1, U Beudt, G Steinau, W Meier-Ruge, M Habedank.   

Abstract

Hirschsprung disease (HD) is genetically heterogeneous with approximately 4% familial occurrence. The recurrence risk is higher in patients with severe involvement. We describe the transmission of histotopochemically proven HD from a father with long aganglionic segment disease to a son with ultrashort segment disease. This observation suggests that the length of involvement in HD is related to the variable expression of the gene defect. It also suggests autosomal dominant inheritance of HD.

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Year:  1993        PMID： 8335012     DOI： 10.1007/bf01955050

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  10 in total

1.  Investigation and management of long-standing chronic constipation in childhood.

Authors:  G S Clayden; J O Lawson
Journal:  Arch Dis Child       Date:  1976-12       Impact factor: 3.791

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

Authors:  G C Webb; C G Keith; N T Campbell
Journal:  J Med Genet       Date:  1988-02       Impact factor: 6.318

4.  Three-generation transmission of Hirschsprung's disease.

Authors:  A H Lipson; J Harvey
Journal:  Clin Genet       Date:  1987-09       Impact factor: 4.438

5.  Interstitial deletion of distal 13q associated with Hirschsprung's disease.

Authors:  M A Lamont; M Fitchett; N R Dennis
Journal:  J Med Genet       Date:  1989-02       Impact factor: 6.318

6.  Short segment Hirschsprung's disease as a cause of discrepancy between histologic, histochemical, and clinical features.

Authors:  C W Chow; P E Campbell
Journal:  J Pediatr Surg       Date:  1983-04       Impact factor: 2.545

7.  Hirschsprung disease in progeny of affected individuals: a case report and review of the literature.

Authors:  R Carmi; P Hawley; J W Wood; P S Gerald
Journal:  Birth Defects Orig Artic Ser       Date:  1982

8.  Children of those treated surgically for Hirschsprung's disease.

Authors:  C O Carter; K Evans; V Hickman
Journal:  J Med Genet       Date:  1981-04       Impact factor: 6.318

9.  Familial aspects of Hirschsprung's disease.

Authors:  S W Moore; H Rode; A J Millar; R Albertyn; S Cywes
Journal:  Eur J Pediatr Surg       Date:  1991-04       Impact factor: 2.191

10.  Hirschsprung's disease in a kindred: a possible clue to the genetics of the disease.

Authors:  I T Cohen; M A Gadd
Journal:  J Pediatr Surg       Date:  1982-10       Impact factor: 2.545
  10 in total
  1 in total

1.  Hirschsprung's disease in an adult patient with familial occurrence: report of a case.

Authors:  T Nagashima; F Konishi; T Sato; T Sato; S Makino; K Kanazawa
Journal:  Surg Today       Date:  1998       Impact factor: 2.549
  1 in total

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