Total colonic aganglionosis associated with interstitial deletion of the long arm of chromosome 10
Martucciello, G. ; Bicocchi, M. P. ; Dodero, P. ; Lerone, M. ; Silengo Cirillo, M. ; Puliti, A. ; Gimelli, G. ; Romeo, G. ; Jasonni, V.
Springer
Published 1992
Springer
Published 1992
| ISSN: |
1437-9813
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|---|---|
| Keywords: |
Total colonic aganglionosis ; Hirschsprung's disease ; Neurocristopathies ; Pathogenesis ; Chromosome 10
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| Source: |
Springer Online Journal Archives 1860-2000
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| Topics: |
Medicine
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| Notes: |
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.
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| Type of Medium: |
Electronic Resource
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| URL: |