Single cell chromosome rearrangements in indivuduals with reproductive failure

Abstract

Single cell chromosome rearrangements (SCCR) are incidental findings in cell cultures. Nevertheless, some authors have implicated them in habitual abortion. Ninety individuals classified in four groups were prospectively studied: A) individuals with spontaneous abortions, malformed children or molar pregnancies (N = 36); B) azoospermic males (N = 14); C) individuals with one or more children with either de novo or inherited, constitutional, chromosome abnormalities (N = 26), and D) individuals with healthy children and no reproductive failure (control group, N = 14). Lymphocyte chromosome preparations were stained for GTG bands, and 50-100 metaphases were scored per individual. The rearrangements observed were translocations, deletions, duplications, isochromosomes, rings, fragments and markers. Thirty-four individuals (21 males, 13 females) had a range of 1-5 SCCR. Four had rearrangements only of chromosomes 7 and 14. SCCR frequency (with the exception of rearrangements involving chromosomes 7 and 14) was 0.0063, while that of rearrangements between chromosomes 7 and 14 was 0.0010. Statistical intergroup comparisons (<FONT FACE="Symbol">c</font>2 with Yates correction) did not show significant differences. Hence, the occurrence of SCCR in our sample was found to be independent of ascertainment mode and sex.