Two novel familial balanced translocations t[8;11][p23;q21] and t[6;16][q26;p12] implicated in recurrent spontaneous abortion

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