Molecular and cytogenetic characterization of two patients with recurrent miscarriages and X-autosome translocation

Abstract

• Aim: To report two patients with recurrent miscarriages and unique reciprocal X-autosomal translocation.
• Materials and Methods: Cytogenetic analysis was performed using G-banding and Molecular cytogenetic analysis by Fluorescence in situ hybridization to confirm the breakpoint regions.
• Results: The chromosomal analysis of the two cases revealed a karyotype of 46,X,t(X;22)(p11.21;q13.3)
• in the first patient and 46,X,t(X;2)(q22;q13) in second patient. Both the cases were confirmed by using whole chromosome paint probes.
• Conclusions: This is the rare report of X-autosomal translocations with unique breakpoint regions and their association with recurrent miscarriages. The translocation breakpoint in case 2 on Xq22 and on Xp11.21 in case 1 might be a risk factor for recurrent miscarriages. Here the impact of the X-autosomal translocations is discussed.
• Key words: Recurrent miscarriages, translocations, X-autosomal translocations