[A Norwegian polyposis family. From catastrophe to prevention].
A Norwegian polyposis family (PP29) including ten affected cases over five generations is reported with clinical case histories. In the first three generations one patient died in her thirties of "tuberculosis" and the other five affected patients died of gastrointestinal cancer. Of 12 at risk in the 4th generation, three had polyposis and underwent prophylactic colectomies, six were normal at regular follow-up rectoscopies till 35-40 years of age and three avoided examination. One of four at risk persons in the 5th generation had polyposis and underwent colectomi with ileoanal anastomosis. DNA-typing using D5S71 (p11c11) showed segregation which confirmed linkage and almost ruled out the possibility of any of the three non-controlled at risk persons being polyposis gene carriers. Another family (PP11) illustrates how typing, using the probe D5S71, may allow early and prenatal diagnosis.
Andresen
P A
PA
Gedde-Dahl
T
T
Bergan
A
A
Berstad
T
T
Sellgren
A C
AC
D011125:Adenomatous Polyposis Coli / Q000235:genetics* / Q000517:prevention & control; D000328:Adult; D000368:Aged; D004247:DNA / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009664:Norway; D010375:Pedigree; D011296:Prenatal Diagnosis
D004247:DNA
En norsk polyposeslekt. Fra katastrofe til profylakse.