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Case Report



Four Novel Balanced Reciprocal Translocations and a Novel Inversion Associated with Recurrent Spontaneous Abortions- A case report.

Puspal De, Sudipa Chakravarty, Amit Chakravarty.

Abstract
Summary
Aim/background
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.
Methods
Chromosomal analysis from lymphocyte culture of the phenotypically normal couples were done to evaluate the role of chromosomal abnormalities in Recurrent spontaneous abortion (RSA) and to offer appropriate genetic counseling to them.
Results
Clinical and hormonal profile of the couples revealed normal phenotypes. Chromosomal analysis of the couples showed karyotypes like 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), inv(11)(q23.2q24.3).
Conclusion
Among the cases mentioned in this study four translocation cases and inversion and translocation within single individual were not previously reported in any other literature. Novel balanced reciprocal translocations (BRT) were reported as original investigation in four individuals and single case of translocation and inversion within same individual in new break-points. The study showed chromosomal anomalies like balanced translocation, inversion and duplication causing recurrent pregnancy losses from different unrelated families and there was no history of consanguineous marriage in any of them.

Key words: Balanced translocation, Recurrent pregnancy loss, Chromosomal anomaly, recurrent spontaneous abortion, Cytogenetic evaluation.



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