Centromeric association of a microchromosome Y in two male patients.

ABSTRACT

We characterized two Y-ring microchromosomes (MC) found in an azoospermic patient with Turner stigmata (case A) and a male infant with hypospadias (case B). The karyotypes, as assessed by banding, FISH, and STRs/STSs analyses, were 46,X,r(Y).ish r(Y)(p11.3q11.222)(SRY+,DYZ3+) and 46,X,+r(Y)/45,X.ish r(Y)(p 11.2q11.2)(Xp/Yp-,SRY+,DYZ3+) respectively. In both cases, we evaluated the association of each MC with the centromere of the nearest and second nearest chromosomes in G-banded metaphases by means of measuring the intervening distance according to two criteria < or =1 time or < or =3 times the size of the MC in each metaphase. The case A's MC was associated 84 times in 98 cells according to the latter or less strict criterion and two times in 98 cells according to the strict criterion; the corresponding values for case B were 84 and two in 95 cells respectively. The centromeric association appears to be related to centromeric attraction mediated by heterochromatin or centromere-specific proteins, the replication time, and the Rabl orientation.