Cytogenetical investigations in patients with primary hyper‐parathyroidism and multiple endocrine neoplasia type 1

摘要

Chromosomal instability can be associated with an increased tendency to develop malignancies. Chromosomal analyses of cultured lymphocytes were performed in 40 members of families with the syndrome of multiple endocrine neoplasia type 1 (MEN-I), 15 patients with sporadic primary hyperparathyroidism, and SO healthy controls. In both patient groups, there were individuals with an increased frequency of chromosomal breakages. The possibility remains that this defect might be related to future development of malignancies. The great overlap between, and within, the MEN-1 families and the others makes chromosomal analyses unsuitable for screening with the aim to detect affected but not yet symptomatic carriers of the MEN-1 gene.