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Del(10)(q22.3q24.1) associated with juvenile polyposis

✍ Scribed by Jacoby, Russell F.; Schlack, Steven; Sekhon, Gurbax; Laxova, Renata

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 178 KB
Volume: 70
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970627)70:4<361::aid-ajmg6>3.0.co;2-w

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✦ Synopsis

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).

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