Dicentric and monocentric Robertsonian translocations in man.

Abstract

5 balanced Robertsonian translocations in man were identified by fluorescence studies. Orcein staining showed two distinct centromeres in 4 of these cases (tdic(13;13), tdic(13;14), tdic(15;21), tdic(21;22)) indicating breaks in the short arms of the involved chromosomes. The dicentric translocation chromosomes were rather stable but monocentrics were noticed in each case. Fluorescence- and measurement studies seemed to indicate that an invisible centromere and part of the short arms were present in these monocentric chromosomes. One case, t(14q21q), was monocentric in all metaphase plates but measurement studies were very suggestive of a visible 21 centromere and incorporation of the invisible 14 centromere (and short arm material) in the long arm of the translocated 14 chromosome, indicating that this translocation originally might have been a real dicentric. Heterochromatin staining was carried out in all cases. The tdic(15;21) showed 6 heterochromatin blocks; 2 of these blocks were probably satellites from chromosome No. 21, visible too in fluorescence. The 4 other translocations showed 4 separated blocks. No differences were observed between monocentrics and dicentrics supporting the theory of a preserved, but invisible centromere in monocentrics.