Balanced Reciprocal Translocation in A Case of Recurrent Miscarriage

Reciprocal translocation carriers have reduced fertility, increased risk of spontaneous abortion or unbalanced karyotype in their offspring. Here, we report the inheritance of a translocation between chromosomes 12 and 16 in a family with a history of five consecutive blighted ova and an offspring with three cell lines of different genotypes. We assessed parental karyotypes and identified a heterozygous reciprocal translocation in the father (46, XY.t (12; 16) (q24.12; p13.2)). The t (12; 16) is associated with fetal wastage and may play a role in the etiology of the family's miscarriage. These findings can be used as an effective tool for reproductive guidance and genetic counseling.