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  • Title: Two novel familial balanced translocations t(8;11)(p23;q21) and t(6;16)(q26;p12) implicated in recurrent spontaneous abortion.
    Author: Keify F, Zhiyan N, Mirzaei F, Tootian S, Ghazaey S, Abbaszadegan MR.
    Journal: Arch Iran Med; 2012 Apr; 15(4):249-52. PubMed ID: 22424046.
    Abstract:
    Reciprocal translocations represent one of the most common structural rearrangements observed in humans. Estimates of the population frequency range from 1/673 to 1/1000. We have described two novel balanced translocations in two unrelated families who experienced Recurrent spontaneous abortions (RSA) following their separate non-consanguineous marriages. Initial cytogenetic studies were performed on cultured blood cells. High resolution GTG-banding analysis using cytovision software performed on their chromosomes revealed a novel balanced translocation t(8;11)(p23;q21) in a brother (45 years) and his sister (27 years) in one family. The second novel balanced translocation t(6;16)(q26;p12) was observed in a consanguineous couple with 4 RSA. These two families have an increased risk of having children with unbalanced karyotypes or RSA, because of incorrect chromosomal segregation during meiosis.
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