E-ISSN 2149-2018
 

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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Pubmed Style

Puspal De, Sudipa Chakravarty, Amit Chakravarty. Four Novel Balanced Reciprocal Translocations and a Novel Inversion Associated with Recurrent Spontaneous Abortions- A case report.. Appl Med Res. 2017; 3(1): 1-4. doi:10.5455/amr.20170121013406


Web Style

Puspal De, Sudipa Chakravarty, Amit Chakravarty. Four Novel Balanced Reciprocal Translocations and a Novel Inversion Associated with Recurrent Spontaneous Abortions- A case report.. http://www.ejmamr.com/?mno=250482 [Access: December 15, 2018]. doi:10.5455/amr.20170121013406


AMA (American Medical Association) Style

Puspal De, Sudipa Chakravarty, Amit Chakravarty. Four Novel Balanced Reciprocal Translocations and a Novel Inversion Associated with Recurrent Spontaneous Abortions- A case report.. Appl Med Res. 2017; 3(1): 1-4. doi:10.5455/amr.20170121013406



Vancouver/ICMJE Style

Puspal De, Sudipa Chakravarty, Amit Chakravarty. Four Novel Balanced Reciprocal Translocations and a Novel Inversion Associated with Recurrent Spontaneous Abortions- A case report.. Appl Med Res. (2017), [cited December 15, 2018]; 3(1): 1-4. doi:10.5455/amr.20170121013406



Harvard Style

Puspal De, Sudipa Chakravarty, Amit Chakravarty (2017) Four Novel Balanced Reciprocal Translocations and a Novel Inversion Associated with Recurrent Spontaneous Abortions- A case report.. Appl Med Res, 3 (1), 1-4. doi:10.5455/amr.20170121013406



Turabian Style

Puspal De, Sudipa Chakravarty, Amit Chakravarty. 2017. Four Novel Balanced Reciprocal Translocations and a Novel Inversion Associated with Recurrent Spontaneous Abortions- A case report.. Applied Medical Research, 3 (1), 1-4. doi:10.5455/amr.20170121013406



Chicago Style

Puspal De, Sudipa Chakravarty, Amit Chakravarty. "Four Novel Balanced Reciprocal Translocations and a Novel Inversion Associated with Recurrent Spontaneous Abortions- A case report.." Applied Medical Research 3 (2017), 1-4. doi:10.5455/amr.20170121013406



MLA (The Modern Language Association) Style

Puspal De, Sudipa Chakravarty, Amit Chakravarty. "Four Novel Balanced Reciprocal Translocations and a Novel Inversion Associated with Recurrent Spontaneous Abortions- A case report.." Applied Medical Research 3.1 (2017), 1-4. Print. doi:10.5455/amr.20170121013406



APA (American Psychological Association) Style

Puspal De, Sudipa Chakravarty, Amit Chakravarty (2017) Four Novel Balanced Reciprocal Translocations and a Novel Inversion Associated with Recurrent Spontaneous Abortions- A case report.. Applied Medical Research, 3 (1), 1-4. doi:10.5455/amr.20170121013406





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