Del(10)(q22.3q24.1) associated with juvenile polyposis
Corresponding Author
Russell F. Jacoby
Department of Medicine, Section of Gastroenterology, University of Wisconsin, Madison
University of Wisconsin Comprehensive Cancer Center, University of Wisconsin, Madison
Wm. S. Middleton Memorial Veteran's Hospital, Madison, Wisconsin
H6/516 Clinical Science Center, 600 Highland Avenue, Madison, WI 53792Search for more papers by this authorSteven Schlack
Department of Medicine, Section of Gastroenterology, University of Wisconsin, Madison
Search for more papers by this authorGurbax Sekhon
Departments of Genetics and Pediatrics, University of Wisconsin, Madison
Search for more papers by this authorRenata Laxova
Departments of Genetics and Pediatrics, University of Wisconsin, Madison
Search for more papers by this authorCorresponding Author
Russell F. Jacoby
Department of Medicine, Section of Gastroenterology, University of Wisconsin, Madison
University of Wisconsin Comprehensive Cancer Center, University of Wisconsin, Madison
Wm. S. Middleton Memorial Veteran's Hospital, Madison, Wisconsin
H6/516 Clinical Science Center, 600 Highland Avenue, Madison, WI 53792Search for more papers by this authorSteven Schlack
Department of Medicine, Section of Gastroenterology, University of Wisconsin, Madison
Search for more papers by this authorGurbax Sekhon
Departments of Genetics and Pediatrics, University of Wisconsin, Madison
Search for more papers by this authorRenata Laxova
Departments of Genetics and Pediatrics, University of Wisconsin, Madison
Search for more papers by this authorAbstract
Juvenile polyps are the most frequent gastrointestinal polyps with a malignant potential for which the genetic basis is unknown. Juvenile polyps, with a normal epithelium but hypertrophic lamina propria, are histologically quite distinct from adenomatous polyps which have dysplastic changes in epithelial nuclei. Furthermore, the adenomatous polyposis coli (APC) gene on Chr 5, mutated somatically in adenomatous polyps and mutated in the germline of patients with familial adenomatous polyposis, is not linked to hereditary juvenile polyposis. We provide the first report indicating that a tumor suppressor gene associated with juvenile polyposis may be located at 10q22.3q24.1. Cytogenetic studies of a patient with juvenile polyposis and multiple congenital abnormalities of the head, extremities, and abdomen revealed a de novo interstitial deletion of Chr 10 as the only defect, del(10)(10q22.3q24.1). Am. J. Med. Genet. 70:361–364, 1997. © 1997 Wiley-Liss, Inc.
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