Total colonic aganglionosis associated with interstitial deletion of the long arm of chromosome 10
@article{Martucciello2004TotalCA, title={Total colonic aganglionosis associated with interstitial deletion of the long arm of chromosome 10}, author={Giuseppe Martucciello and Maria Patrizia Bicocchi and P. Dodero and Margherita Lerone and M. Silengo Cirillo and Aldamaria Puliti and Giorgio Gimelli and Giovanni Romeo and Vincenzo Jasonni}, journal={Pediatric Surgery International}, year={2004}, volume={7}, pages={308-310} }
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…
58 Citations
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