Multiple polyposis coli associated with Gardner's syndrome and chromosomal mosaicism: a family analysis.

Abstract

A family in which the proband (father) has multiple polyposis coli associated with Gardner's syndrome and his only son, also with multiple polyps, has been studied cytogenetically. The karyotypes of the proband and the son have shown deletion in the short arm of one chromosome 12 in a small percentage of cells. Normal cells and cells with a deletion of a 12p were noted, not only in the lymphocytes, but also in the skin fibroblast culture of the son. The karyotypes of the asymptomatic mother and their unaffected daughter were considered to be normal.