Gardner syndrome in a boy with interstitial deletion of the long arm of chromosome 5.
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.
Kobayashi
T
T
Department of Surgery, Mihara Red Cross Hospital, Japan.
Narahara
K
K
Yokoyama
Y
Y
Ueyama
S
S
Mohri
O
O
Fujii
T
T
Fujimoto
M
M
Ohtsuki
S
S
Tsuji
K
K
Seino
Y
Y
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