TY - JOUR
T1 - Reproductive risk in mating between two translocation carriers
T2 - Case report and review of the literature
AU - Tsuji, K.
AU - Narahara, K.
AU - Yokoyama, Y.
AU - Ninomiya, S.
AU - Yonesawa, S.
AU - Hiramatsu, Y.
AU - Masaoka, H.
AU - Kudo, N.
AU - Seino, Y.
PY - 1993/1/1
Y1 - 1993/1/1
N2 - 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.
AB - 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.
KW - adjacent-2 segregation
KW - alternative segregation
KW - habitual abortion
KW - mating between translocation carriers
KW - reproductive failure
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U2 - 10.1002/ajmg.1320460513
DO - 10.1002/ajmg.1320460513
M3 - Article
C2 - 8322814
AN - SCOPUS:0027272111
SN - 0148-7299
VL - 46
SP - 524
EP - 528
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 5
ER -