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

摘要

Objective:A couple with recurrent spontaneous abor-tions has been referred to cytogenetic laboratory of Medi-cal Biology and Genetics Department for chromosomal analysis.Material and methods:For chromosome analysis, pe-ripheral blood culture was performed. The samples were stained by Giemsa Technique (GTG).Results:Twenty metaphase chromosomes were karyo-typed, and 46,XY,t(4;13)(q31.3-q33) karyotype was iden-tified 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 break-points in bands: der(4) monosomy 4qteràq31.3, trisomy 13qà33qter, and der(13) trisomy 4qteràq31.3, monoso-my13qà33qter.Conclusions:Although no phenotypically abnormali-ties 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 dis-tribution (46,XY/46,XX, monosomy 4qteràq31.3, tri-somy 13qà33qter or 46,XY/46,XX,der(13) trisomy 4qteràq31.3, monosomy 13qà33qter) of translocation during gamete formation and prenatal diagnosis recom-mended for their further pregnancies