An analysis of meiotic pairing in trisomy 21 oocytes using fluorescent in situ hybridization

We report the use of chromosome 21-specific painting probes to analyze early stages of oogenesis in nine trisomy 21 fetuses. The proportion of cells in zygotene and pachytene in the trisomic ovaries ranged from 8 to 70% with a mean of 42% +/- 19 while the comparable values of euploid specimens ranged from 34 to 90% with a mean of 65% +/- 19. The low proportion of pairing cells may be the basis for the ovarian dysgenesis observed in some trisomy infants. Five percent of trisomic pachytene cells exhibited complete asynapsis which is an order of magnitude higher than that observed in euploid cells. A large fraction of the asynaptic cells were atretic which is consistent with the hypothesis of meiotic pairing as a signal for atresia. In addition, the asynaptic cells exhibited asynapsis of chromosomes other than 21, which we interpret as an interchromosomal effect of trisomy 21.