E-ISSN 2149-2018 editor@ejmamr.online


Applied Medical Research. 2017; 5(1):(52-107)


Four novel balanced reciprocal translocations and a novel inversion associated with recurrent spontaneous abortions

Puspal De, Sudipa Chakravarty, Amit Chakravarty

Abstract
The main objective of this study was to evaluate the cause of reproductive failures in couples by clinical and cytogenetic analysis. Couples with history of recurrent pregnancy losses (RPL) were referred to our cytogenetic laboratory for chromosomal evaluation. Chromosomal analysis from lymphocyte culture of the phenotypically normal couples was done to evaluate the role of chromosomal abnormalities in recurrent spontaneous abortion and to offer appropriate genetic counseling to them. Clinical and hormonal profile of the couples revealed normal phenotypes. Chromosomal analysis of the couples showed karyotypes such as 45,XX,der(13;14) (q10;q10), 46,XX,t(1;17)(p36.2;p13.1), 46,XX,t(9;16)(p24.2;q12.2), 46,XX,t(1;18)(q42.1;q21.2), 46,XY,inv(9) (p11.2q13.3), 46,XY,inv(Y)(p11.2q11.223), 46,XX,inv(14)(q23.2q32.1), 46,XY,(16qh+), 46,XY,t(4;18) (q13.1;q23.0), 46,XX,t(12;14)(q24.1;q32.2), and inv(11)(q23.2q24.3). Among the cases mentioned in this study four translocation cases and inversion and translocation within single individual were not previously reported in any other literatures. Novel balanced reciprocal translocations were reported as original investigation in four individuals and single case of translocation and inversion within the same individual in new break-points. The study showed chromosomal anomalies such as balanced translocation, inversion, and duplication causing RPLs from different unrelated families, and there was no history of consanguineous marriage in any of them.
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