title: Gardner syndrome in a boy with interstitial deletion of the long arm of chromosome 5.
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.
authors.affiliation: Department of Surgery, Mihara Red Cross Hospital, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Kobayashi
authors.forename: K
authors.initials: K
authors.lastname: Narahara
authors.forename: Y
authors.initials: Y
authors.lastname: Yokoyama
authors.forename: S
authors.initials: S
authors.lastname: Ueyama
authors.forename: O
authors.initials: O
authors.lastname: Mohri
authors.forename: T
authors.initials: T
authors.lastname: Fujii
authors.forename: M
authors.initials: M
authors.lastname: Fujimoto
authors.forename: S
authors.initials: S
authors.lastname: Ohtsuki
authors.forename: K
authors.initials: K
authors.lastname: Tsuji
authors.forename: Y
authors.initials: Y
authors.lastname: Seino
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5; D005736:Gardner Syndrome / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male