Reproductive risk in mating between two translocation carriers: case report and review of the literature.
We conducted a study to determine the reproductive risk in a couple who were translocation carriers. This couple, who carried balanced reciprocal translocations, experienced habitual abortions. The wife had a karyotype of 46,XX,t(7;13)(p15.3;q12.3) and the husband of 46,XY,t(1;7)(p11.1;p11.1). Chromosome study of their fourth abortus demonstrated a chimera consisting of two cell lines with a 46,XY and a 46,XX,t(1;7)(p11.1;p11.1)pat, -13, + der(7)t(7;13)(p15.3;q12.3)mat, karyotype. A review of the literature indicates that the risk of having unbalanced live offspring or of spontaneous abortion/stillborns is similar in couples in whom both were translocation carriers and in couples in whom one individual was a translocation carrier. The apparent lack of increased reproductive failure may result from the selective disadvantage of aneusomic gametes at fertilization or very early spontaneous abortions of unbalanced conceptuses.
Tsuji
K
K
Department of Pediatrics, Okayama University Medical School, Japan.
Narahara
K
K
Yokoyama
Y
Y
Ninomiya
S
S
Yonesawa
S
S
Hiramatsu
Y
Y
Masaoka
H
H
Kudo
N
N
Seino
Y
Y
D000026:Abortion, Habitual / Q000235:genetics*; D000328:Adult; D002678:Chimera; D002871:Chromosome Banding; D002878:Chromosomes, Human, Pair 1; D002882:Chromosomes, Human, Pair 13; D002897:Chromosomes, Human, Pair 7; D005260:Female; D005313:Fetal Death / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011256:Pregnancy Outcome / Q000235:genetics*; D012307:Risk Factors; D014178:Translocation, Genetic