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  • Title: Reproductive outcome of a case with familial balanced translocation t(3;6): implications for genetic counseling.
    Author: Zhang HG, Liu XY, Hou Y, Chen S, Deng S, Liu RZ.
    Journal: Genet Mol Res; 2015 Mar 31; 14(1):2809-15. PubMed ID: 25867430.
    Abstract:
    Although it is known that parental carriers of structural chromosomal rearrangements are associated with recurrent pregnancy loss, subsequent natural pregnancies remain possible. We examined the reproductive outcome of a familial balanced translocation with t(3;6)(q12;q27). Karyotyping of the proband revealed 46,XY chromosomes with the balanced translocation t(3;6). The first 2 pregnancies resulted in spontaneous abortions. Based on the proband karyotype, his father and half-brother were subjected to cytogenetic analysis, and both showed 46,XY, t(3;6)(q12;q27). After genetic counseling, the proband chose to continue the pregnancy. During the third pregnancy, the subject gave birth to a normal male infant. For parental carriers with balanced chromosomal translocations, natural pregnancy should be considered during genetic counseling.
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