July 2016 · Volume 5 · Issue 7 Page 2445 International Journal of Reproduction, Contraception, Obstetrics and Gynecology Singh K et al. Int J Reprod Contracept Obstet Gynecol. 2016 Jul;5(7):2445-2447 www.ijrcog.org pISSN 2320-1770 | eISSN 2320-1789 Case Report Successful pregnancy outcome in a patient with Robertsonian translocation (13; 14) (Q10:Q10) with recurrent pregnancy loss Kalpana Singh*, Geetam Bharti, Dipali Prasad, Rajeev Ranjan INTRODUCTION Robertsonian translocations are unique types of whole- arm translocations that result from ‘centric fusion’ of the long arms of two acrocentric chromosomes with loss of the short arms, thus reducing the number of chromosomes by one. 1 It is mainly observed in 13, 14, 15, 21 and 22 chromosomes. Most frequent type of RT includes translocation rob (13;14), whereas translocation rob (13;15) and rob (14;15) are rare structural rearrangements. 2 Robertsonian translocation is associated with various risks such as infertility due to unbalanced gametes, repeated pregnancy loss and cancers (acute and chronic myelogenous leukemia). It is the most common structural chromosomal abnormalities with an incidence of 0.1% of general population, 1.1% in couples with recurrent pregnancy loss and 1% of the infertile couples. 3 CASE REPORT A 26 year old lady married for the past 5 years, with history of repeated miscarriages and inability to conceive for 2 years reported to the department of reproductive biology of the Indira Gandhi Institute of Medical Sciences, Patna, India in March 2013.prior to this she had three miscarriages at 11 weeks, 8 weeks and 6 weeks. On physical examination no abnormality was detected in both partners. All routine investigations were in normal limits. Lupus anticoagulant and anticardiolipin was Department of Obstetrics and Gynaecology, Indira Gandhi Institute of Medical Sciences, Patna, Bihar, India Received: 29 April 2016 Accepted: 02 June 2016 *Correspondence: Dr. Kalpana Singh, E-mail: drkalpana1@yahoo.com Copyright: © the author(s), publisher and licensee Medip Academy. This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. ABSTRACT Robertsonian translocations are unique type of whole-arm translocation that result from ‘centric fusion’ of the long arms of two acrocentric chromosomes with loss of the short arms, thus reducing the number of chromosomes by one. RT’s are present in 0.1% of the general population and 1% of the infertile population. Most frequent type of RT includes translocation rob (13; 14), whereas translocation rob (13; 15) and rob (14; 15) are rare. In the present report, RT in a female with spontaneous repeated abortions and infertility is reported. Cytogenetic analysis of a couple with repeated abortions revealed the presence of 45, XX, rob (13; 14) (q10; q10) chromosomal constitution in the female partner. The patient conceived after diagnostic laparoscopy followed by ovulation induction and intra uterine insemination and with proper antenatal care and support she delivered a healthy male baby with normal karyotype. The history of repeated abortions and infertility could be the outcome of unbalanced gametes (either monosomy or trisomy) resulting during the meiotic segregation of the balanced heterozygote female carrier. Cytogenetic analysis should be offered to all couples with unexplained recurrent abortions to evaluate the probable presence of any chromosomal aberrations. Keywords: Recurrent pregnancy loss, Genetic cause, Robertsonian translocation DOI: http://dx.doi.org/10.18203/2320-1770.ijrcog20162146