Pediatric Surgery International

, Volume 7, Issue 4, pp 308–310

Total colonic aganglionosis associated with interstitial deletion of the long arm of chromosome 10

  • G. Martucciello
  • M. P. Bicocchi
  • P. Dodero
  • M. Lerone
  • M. Silengo Cirillo
  • A. Puliti
  • G. Gimelli
  • G. Romeo
  • V. Jasonni
Case Report

Abstract

We present the case of a patient with total colonic aganglionosis and small-bowel involvement (TCSA) associated with a 46, XX, del 10 (q11.21 q21.2) karyotype. Seromuscular biopsies were taken from the rectum, colon, cecum, and terminal ileum. The alpha-naphthylesterase technique was applied to demonstrate intestinal ganglia of the myenteric plexus. The patient did not have associated anomalies. The association of TCSA with 10 long-arm interstitial deletion has not been reported in the literature. Molecular studies in cases of TCSA might reveal whether chromosome 10 plays a role in the pathogenesis of the disease.

Key words

Total colonic aganglionosis Hirschsprung's disease Neurocristopathies Pathogenesis Chromosome 10 

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Copyright information

© Springer-Verlag 1992

Authors and Affiliations

  • G. Martucciello
    • 1
  • M. P. Bicocchi
    • 2
  • P. Dodero
    • 3
  • M. Lerone
    • 4
  • M. Silengo Cirillo
    • 4
  • A. Puliti
    • 4
  • G. Gimelli
    • 2
  • G. Romeo
    • 4
  • V. Jasonni
    • 1
  1. 1.Department of Pediatric SurgeryG. Gaslini InstituteGenoaItaly
  2. 2.Laboratory of Cytogenetic, Department of Molecular GeneticsG. Gaslini InstituteGenoaItaly
  3. 3.Surgical Emergency UnitG. Gaslini InstituteGenoaItaly
  4. 4.Department of Medical GeneticsG. Gaslini InstituteGenoaItaly
  5. 5.Divisione di Chirurgia PediatricaIstituto G. GasliniGenovaItaly

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