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A Balanced Reciprocal Translocation Case in Family with a History of Recurrent Abortions

Keywords: Balanced Reciprocal Translocation , Recurrent Abortions , Cytogenetic.

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Abstract:

In this study, we are presenting the results of cytogenetic analysis and molecular cytogenetic analysis of the couple and their family, who were referred to our genetic diagnostic laboratory with two abortions in their reproductive history. We found a normal karyotype (46,XX) in female, and balanced reciprocal translocation [46,XY,t(3;18)(p25;p11.3)] in the male. To determine the parental origin of translocation, we examined the individuals of the family, and we found that the translocation: [46,XY,t(3;18)(p25;p11.3)] is paternally inherited. We concluded that the abortions in the history of this carrier family might be due to the unbalanced distribution of translocation, during gamete formation, prenatal diagnosis recommended for their further pregnancies.

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