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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Martucciello, G., Bicocchi, M.P., Dodero, P. et al. Total colonic aganglionosis associated with interstitial deletion of the long arm of chromosome 10. Pediatr Surg Int 7, 308–310 (1992). https://doi.org/10.1007/BF00183991
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DOI: https://doi.org/10.1007/BF00183991