Author/Authors :
Keify, Fatemeh Pardis Clinical and Genetics Laboratory, ايران , Zhiyan, Narges Pardis Clinical and Genetics Laboratory, ايران , Zhiyan, Narges Razavi’s Social Welfare Organization, ايران , Mirzaei, Farzaneh Pardis Clinical and Genetics Laboratory, ايران , Tootian, Semiramis Pardis Clinical and Genetics Laboratory, ايران , Ghazaey, Saeedeh Pardis Clinical and Genetics Laboratory, ايران , Abbaszadegan, Mohammad R. Pardis Clinical and Genetics Laboratory, ايران , Abbaszadegan, Mohammad R. MUMS - Avicenna Research Institute - Division of Human Genetics, Immunology Research Center,, ايران
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.
Keywords :
Balanced translocation, karyotyping, t(8 , 11), t(6 , 16)
