Gardner syndrome in a boy with interstitial deletion of the long arm of chromosome 5
- 15 December 1991
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 41 (4) , 460-463
- https://doi.org/10.1002/ajmg.1320410416
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.Keywords
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