Abstract
Abstract Autosomal reciprocal translocations are one of the common chromosomal abnormalities with incidence reaching to 1:500. The balanced chromosomal translocation defined as a structural chromosomal disorder where two segments of non-homologous chromosomes break and exchange with no observable loss of genetic material or interruption of the genes. It is either de novo or inherited. Approximately 6.7% of the de novo balanced chromosomal translocations are associated with abnormal phenotype. Whereas almost all inherited cases of the balanced reciprocal translocations have normal phenotype. However, all carries whether de novo or inherited are at a great risk of having: infertility; recurrent miscarriages or stillbirths; children with congenital anomalies or delayed milestones. This report illustrates a new breakpoint translocation in a normal phenotype Libyan male, 41 years old, who was diagnosed as a carrier of apparently balanced reciprocal translocation, t(13;18)(q12;q22). His wife, 29 years old, had history of recurrent miscarriages and stillbirth of a female baby with cardiac congenital anomaly. The screening for the other common causes of the birth defects was negative. This report will discuss the consequences and possible role of the balanced autosomal reciprocal translocation, which detected in the father, on productivity of the couples. Moreover, the report will raise an ethical issue regarding whether testing the newly delivered phenotypical normal twins for being carriers of the translocation or not. The risk of the parents for having another abnormal offspring and possible available management will be also highlighted. In conclusion, t(13;18) (q12;q22) is an inherited balanced reciprocal translocation at new breakpoints and was the cause of the recurrent miscarriages and the congenitally abnormal child in the reported family. Keywords: chromosomal translocation, congenital anomaly.