Reference | ||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
5 | 7 | 8 | 9 | 11 | 10 | 10 | 12 | 14 | This report | |||||
Cytogenetics | del(5)(q15q22) | del(5)(q15q22) | del(5)(q22.1q31.1) | del(5)(q22q23.2) | del(5)(q15q23.2) | del(5)(21.3q23.1) | del(5)(q15q22.3/ 23.1) | del(5)(q15q22.3) | t(5;10)(q22;q25) | t(5;8)(q22;p23.1) | ||||
APC gene | NR | NR | NR | Del | Del | Del | Del | Del | Dis/ partial del | Del | ||||
No of cases | 1 | 2 | 1 | 2 | 1 | 1 | 1 | 1 | 2 | 1 | ||||
Age(s) | 42 | 31 | 33 | 15 | 25 | 54 | 30 | 38 | 31 | 43 | 32 | 47 | 26 | |
Polyposis (distribution) | + | + | + | + | + | + | + | + | + | + | + | + | + | |
(Diffuse) | (NR) | (NR) | (Diffuse) | (Prox) | (NR) | (NR) | (Prox) | (Prox) | (NR) | (Diffuse) | (Prox) | (Prox) | ||
Cancer (site) | + | − | − | − | − | − | − | − | − | + | − | + | + | |
(R,A) | (R) | (C) | (App) | |||||||||||
ECMs | Des | Den, SC | Den, SC, RET, O | SC, RET, O, DP | NR | Des, SC, DP | Den, SC, RET | NR | DP | Den | ||||
Mental retardation | + | + | + | + | + | + | + | ± | + | + | − | − | + | |
(Severe) | (Mod) | (NR) | (Mild/mod) | (Severe) | (Low normal) | (Mild) | (Severe) | (Mild) | ||||||
Dysmorphic features | + | + | + | + | + | − | + | + | + | + | − | − | + | |
(Multiple) | (Multiple) | (Multiple) | (Minor) | (Multiple) | (Minor) | (Multiple) | (Minor) | (Minor) |
A: ascending colon; App: appendix; C: caecum; D: descending colon; Del: deletion; Den: dental abnormalities; Des: desmoid tumour; Dis: disruption; DP: duodenal polyp; ECMs: extracolonic manifestations of Gardner's syndrome; NR: not reported; O: osteoma; Prox: proximal; R: rectum; Ret: congenital hypertrophy of the retinal pigment epithelium; S: sigmoid colon; SC: skin cysts; T: transverse colon.