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  • Title: Gardner syndrome in a boy with interstitial deletion of the long arm of chromosome 5.
    Author: Kobayashi T, Narahara K, Yokoyama Y, Ueyama S, Mohri O, Fujii T, Fujimoto M, Ohtsuki S, Tsuji K, Seino Y.
    Journal: Am J Med Genet; 1991 Dec 15; 41(4):460-3. PubMed ID: 1776638.
    Abstract:
    We described a 15-year-old boy with Gardner syndrome (GS), mental retardation, and craniofacial abnormalities. High-resolution banding analysis showed an interstitial deletion of the long arm of chromosome 5 (q22.1----q31.1). The breakpoints in the present case and in 3 previously reported 5q- patients with adenomatous polyposis coli suggest that the gene responsible for GS/or familial polyposis coli (FPC) is in the 5q22 region, a result consistent with the findings of linkage studies.
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