A Rare De Novo Reciprocal Translocation 46,XX,rec(7;13)(p22;q32) Karyotype

Carriers of structural chromosomal rearrangements such as Robertsonian or reciprocal translocations have an increased risk of spontaneous abortion and producing offspring with genetic abnormalities. We report an women with uncommon unbalanced Reciprocal translocation carrier 46,XX,rec(7;13)(q22; q32) chromosomal constitution. While her husband and her father showed normal 46,XY karyotype, her son and her mother showed same abnormal kartotype. Peripheral blood were taken from proband and family members, then performed with lymphocyte culture and stained by binded using Giemsa-banding method. According to the cytogenetic study results of first degree relatives of our proband, reciprocal translocation was maternally inherited in our case. Uniparental dysomia (UPD) is an abnormal condition in which a homologous chromosome pair is both from one parent and not from the other parent. The maternal inheritance of translocated chromosomes is same time compatible with UPD.