TY - JOUR
T1 - Gardner syndrome in a boy with interstitial deletion of the long arm of chromosome 5
AU - Kobayashi, T.
AU - Narahara, K.
AU - Yokoyama, Y.
AU - Ueyama, S.
AU - Mohri, O.
AU - Fujii, T.
AU - Fujimoto, M.
AU - Ohtsuki, S. I.
AU - Tsuji, K.
AU - Seino, Y.
PY - 1991/1/1
Y1 - 1991/1/1
N2 - 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.
AB - 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.
KW - Gardner syndrome
KW - adenomatous polyposis coli
KW - chromosome 5
KW - contiguous gene syndrome
KW - interstitial deletion
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U2 - 10.1002/ajmg.1320410416
DO - 10.1002/ajmg.1320410416
M3 - Article
C2 - 1776638
AN - SCOPUS:0025718473
SN - 0148-7299
VL - 41
SP - 460
EP - 463
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 4
ER -