Table 3

 Reported cytogenetically detected deletions of the APC gene and the corresponding phenotypes

No. of familiesAuthorYearDeletion chromosome 5Mode of diagnosisAge at diagnosisColorectal polypsColorectal polyp distributionColectomy (age in years)CRC (age in years)Extraintestinal
*Patient 630, already mentioned in table 1.
1Herrera1986q15–q22Symptoms42>10042Desmoid tumour
1Hockey1989q15–q222727Dental anomalies, epidermoid cysts
q15–q223131Dental anomalies, epidermoid cysts
q15–q22Extensive42
1Kobayashi1991q22.1–q31.1Symptoms15>500ThroughoutOsteomas, dental anomalies, epidermoid cysts, CHRPE
2Lindgren1992q15–q23.2Symptoms20300 (30y)30
q15q22Call up131Epidermoid cysts
1Cross1992q22–q23.2Symptoms25>100Mainly proximalEpidermoid cysts, ostemas, CHRPE
q22–q23.2Symptoms54MultipleCHRPE
2Hodgson1993q21.3–q23.1Symptoms38>100Proximal38NoEpidermoid cysts, desmoid tumour, duodenal polyps
q21.3–q23.1Symptoms20>100Mainly proximalCHRPE, dental anomalies
2Olschwang1993APC regionCHRPE
1Barber1994q15–q22.3Symptoms43Hundreds43
1Pilarski1999q22–q23.2No3950–60Mainly proximal+distalNo CHRPE
1Raedle *2001q21–q22Symptoms18>100Mainly distal18noDesmoid tumour, no osteomas, no CHRPE