title: 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.
authors.affiliation: Pardis Clinical and Genetics Laboratory, Mashhad, Iran.
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Keify
authors.forename: Narges
authors.initials: N
authors.lastname: Zhiyan
authors.forename: Farzaneh
authors.initials: F
authors.lastname: Mirzaei
authors.forename: Semiramis
authors.initials: S
authors.lastname: Tootian
authors.forename: Saeedeh
authors.initials: S
authors.lastname: Ghazaey
authors.forename: Mohammad R
authors.initials: MR
authors.lastname: Abbaszadegan
mesh_terms: D000022:Abortion, Spontaneous / Q000235:genetics*; D000328:Adult; D002871:Chromosome Banding; D002880:Chromosomes, Human, Pair 11; D002885:Chromosomes, Human, Pair 16; D002896:Chromosomes, Human, Pair 6; D002898:Chromosomes, Human, Pair 8; D005260:Female; D006801:Humans; D059785:Karyotype; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D012008:Recurrence; D014178:Translocation, Genetic