A balanced reciprocal translocation case in family with a history of recurrent abortions: 46,XY,t(4;13)(q31.3;q33)

Abstract

Objective: A couple with recurrent spontaneous abortions has been referred to cytogenetic laboratory of Medical Biology and Genetics Department for chromosomal analysis. Material and methods:For chromosome analysis, peripheral blood culture was performed. The samples were stained by Giemsa Technique (GTG).Results: Twenty metaphase chromosomes were karyotyped, and 46,XY,t(4;13)(q31.3-q33) karyotype was identified in the case. As a result of the analysis, his wife was found to have normal karyotype. He had balanced translocation between chromosome 4 and 13 breakpoints in bands: der(4) monosomy 4qteràq31.3, trisomy 13qà33qter, and der(13) trisomy 4qteràq31.3, monoso-my13qà33qter. Conclusions:Although no phenotypically abnormalities were found in the male, the habituel abortions were frequently observed in his wife. We concluded that this carrier family might be due to the unbalanced distribution (46,XY/46,XX, monosomy 4qteràq31.3, trisomy 13qà33qter or 46,XY/46,XX,der(13) trisomy 4qteràq31.3, monosomy 13qà33qter) of translocation during gamete formation and prenatal diagnosis recommended for their further pregnancies.