A de novo complex chromosomal rearrangement with a translocation 7;9 and 8q insertion in a male carrier with no infertility

A de novo complex chromosomal rearrangement (CCR) involving chromosomes 7, 8 and 9 in a male carrier was ascertained through his healthy wife's recurr ent spontaneous abortions. Six pregnancies over eight years resulted in fou r spontaneous abortions and two livebirths who died perinatally due to abno rmal vital signs. Cytogenetic analyses utilizing high resolution chromosome banding technique showed a deletion of band in a der(7) chromosome and an extra band inserting at 8q21.2. Another extra band was also observed at the band 9p24, but it could not be karyotypically determined. Fluorescent in-s itu hybridization using chromosome 7 and 8 specific microdissected library as probes confirmed the insertion of a segment from the translocated chromo some 7 into a chromosome 8, and additionally revealed a translocation betwe en chromosomes 7 and 9. The karyotype of the CCR carrier was determined as 46,XY,t(7;9)(q22;p24),ins(8;7)(q21.2;q22q32).ish der(9)(wcp7 +);ins(8;7)(wc p8 +,wcp7 +). Comparing with previously reported male CCR carriers with our case, we conclude that male CCR carriers may not always present with infer tility or subfertility phenotypes. This may suggest that rare transmission of male carriers could result from abnormal chromosomal rearrangements duri ng meiosis and gametogenesis in addition to frequent infertility.