High-resolution cytogenetic analysis of the peripheral blood lymphocytes of patients with autosomal dominant polycystic kidney disease.

High-resolution cytogenetic analysis was performed on peripheral blood lymphocytes of 11 patients (seven women and four men, range 24-56 years) with proven autosomal dominant polycystic kidney disease (ADPKD). A total of 449 metaphases (an average of 41 per patient) were analyzed. In two of the women changes in the karyotype were found in a single cell: del(3), (q21) in one of them and Int.del(6), (q11q21) in the other. Analysis of the remaining patients, including those in which ADPKD was combined with oligophrenia, did not reveal any deviations from the normal karyotype. Therefore, the established chromosome changes are non-specific and of little importance in diagnosing ADPKD.