Gardner syndrome in a boy with interstitial deletion of the long arm of chromosome 5
- PMID: 1776638
- DOI: 10.1002/ajmg.1320410416
Gardner syndrome in a boy with interstitial deletion of the long arm of chromosome 5 (V体育平台登录)
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. VSports手机版.
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