Cytogenetic investigation in 413 couples with spontaneous abortions

Chromosome Breakage in Individuals with Single-Cell Structural Aberrations and Habitual Abortions

“…Our findings are in agreement with those ofTurleau et al [3], who studied the rate of SB in couples with habitual abortions, and also with those of Schlegelberger et al [4], who studied the amphidicolin-induced rate of chromosome breakage; in both studies, however, the subjects tested had no SCSA as occurred in our sample.…”

“…Single-cell structural chromosomal aberrations (SCSA) are occasionally seen in individuals with an otherwise normal chromosome constitution, but this finding is more frequent in couples with habitual abortions and/or children with aberrant karyotypes [ 1,2], A possible expla nation is that this abnormality results from increased chromosome instability, which can be assumed from the high rate of spontaneous chromosome breakage found in these couples [3], Schlegelberger et al [4] tested the induced chromosome breakage in couples with habitual abortions by adding amphidicolin in their peripheral blood cultures. They found that in these couples the rate of chromosome breakage was significantly increased.…”

Role of chromosome aberrations in recurrent abortion: A study of 269 balanced translocations

“…The frequency of balanced carriers in different groups of couples according to the number of spontaneous abortions at the time of ascertainment, both in the present series and in a series obtained from previous informative studies [Sinet et al, 1973;Turleau et al, 1979;Tsenghi et al, 1981;Schwartz and Palmer, 1983;Diedrich et al, 1983;Lippman-Hand and Vekemans, 19831 is reported in Table II. A "trend of proportions" analysis [Armitage, 1971;Snedecor and Cochran, 19711 shows that in either sample the probability that one of the members of the couple is a balanced carrier increases with the increasing number of spontaneous abortions, the coefficient of regression, which is proved to be linear, being highly significant both for the present series (b = 0.05 rfr 0.02; z = 2.85, p < 0.01) and for the literature series (b = 0.02 rfr 0.009; z = 2.19; p < 0.05).…”

Reproductive risk of paracentric inversion carriers: Report of two unrelated cases with paracentric inversion of the long ARM of chromosome 3

“…abortions (Turleau et al, 1979;Antich et al, 1980;Ward et al, 1980;Simpson et al, 1981;Husslein et al, 1982;Michels et al, 1982;Osztovics et al, 1982;Diedrich et al, 1983;FitzSimmons et al, 1983;Fryns et al, 1984) is 4 : 14, a figure similar to the ratio of 10 : 26 ascertained in the prenatal diagnosis (Van Dyke et al, 1983;Hook et al, 1984). These arguments lead us to suppose that paracentric inversions are associated with spontaneous abortions at least in some inversion carriers.…”

“…Second, if paracentric inversions are related causally to spontaneous abortions as pericentric inversions, the ratio of paracentric inversions to pericentric inversions in repeated aborters would be similar to that in the general population. The ratio from the recently reported systematic surveys of couples with recurrent spontaneous (Yu et al, 1976;Riecardi and Holmquist, 1979;Turleau et al, 1979;Ridler and Sutton, 1981;Van Dyke et al, 1983;Diedrich et al, 1983;Hook et al, 1984), and chromosomes involved are Nos. Multiple spontaneous abortion (two cases), 16 (one case), and X (one case).…”