Mitotic recombination among acrocentric chromosomes' short arms

Routine Q-banding chromosome analysis detected the jumping behaviour of bright fluorescent chromosome 22 satellites (22s+) in two unrelated males (case 1 ascertained for recurrent abortions and case 2 for infertility), and in the mother of one of them, all with a normal karyotype. The 22s+ was present in more than 90% of the cells. In a minority of the cells the polymorphism was present alternatively on another acrocentric, on one chromosome 22 and on another acrocentric, on both chromosomes 22 or it was absent. We take these findings as evidence of mitotic exchanges between the short arms of the acrocentric chromosomes. The presence of a stable 22s+ in the fibroblasts of case 1 and in the lymphocytes of his son indicates that acrocentric short arm exchanges depend both on the type of tissue and on the genetic content of all the other acrocentrics.