Reproductive risk in mating between two translocation carriers: Case report and review of the literature

✍ Scribed by Tsuji, Kazushiro ;Narahara, Kouji ;Yokoyama, Yuji ;Ninomiya, Shinsuke ;Yonesawa, Suguru ;Hiramatsu, Yuji ;Masaoka, Hiroshi ;Kudo, Naofumi ;Seino, Yoshiki

• Publisher: John Wiley and Sons
• Year: 1993
• Tongue: English
• Weight: 440 KB
• Volume: 46
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320460513

✦ Synopsis

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)(pl5.3;ql2.3) and the husband of 46,XY,t(1;7)(pll.l;pll.l). 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)@ll.l;pll.l)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 abortiodstillborns 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 ga-I w metes at fertilization or very early spontaneous abortions of unbalanced conceptuses.