Background: balanced translocation and azoospermia as two main reasons for recurrent pregnancy loss are known to be the leading causes of infertility across the world. balanced translocations in azoospermic males are very rare and extensive studies need to be performed to elucidate the translocation status of the affected individuals. Case Presentaion: The cytogenetic characterization of a 28 year old male and his female partner is reported in this study. The male partner was diagnosed with non-obstructive azoospermia (NOA) and the couple was unable to conceive. Cytogenetic analysis by karyotyping through Giemsa-trypsin-giemsa banding technique (GTG) showed a novel balanced translocation, 46, XY, t(19; 22)(19q13. 4; 22q11. 2), 13ps+ in the male and the female karyotype was found to be 46, XX. Multicolor fluorescence in situ hybridization (mFISH) analysis on paternal chromosomal preparations con-firmed both the region and origin of balanced translocation. The status of Y chromo-some microdeletion (YMD) was analyzed and no notable microdeletion was ob-served. Furthermore, protein-protein interaction (PPI) network analysis was per-formed for breakpoint regions to explore the possible functional genetic associations. Conclusion: The azoospermic condition of the male patient along with novel bal-anced chromosomal translocation was responsible for infertility irrespective of its YMD status. Therefore, cytogenetic screening of azoospermic patients should be performed in addition to routine semen analysis to rule out or to confirm presence of any numerical or structural anomaly in the patient.

Background: Similar rare Robertsonian and balanced reciprocal translocation in both child and mother with a history of multiple miscarriages in the first trimester was the motive to write this case report. Cytogenetic analysis helps in genetic counselling of infertility, BOH and dysmorphology which in turn helps in pre implantation genetic testing. Although many case reports have already been published about Robertsonian and balanced translocations, this is the first case report in India which showed both types of translocation in the same patient, rob (13; 14) and t (4; 7). Interestingly, in the same patient, same translocations were also identified in the mother and father having no chromosomal abnormalities. Case Presentation: Proband with dysmorphology was refered first for karyotyping and later parental karyotyping was performed. Conclusion: Cytogenetic analysis plays an important role in the diagnosis and management of disease along with prenatal screening.

Background: Recurrent miscarriage is a major concern in the couples with reproductive problems. The chromosomal abnormalities, mainly balanced rearrangements are reported in variable phenotypes and the prevalence of them is 2-8% in such couples.Case Presentation: In this study, the clinical, cytogenetic and molecular cytogenetic evaluations were performed on a couple with RM. The cytogenetic analysis of the husband revealed a balanced reciprocal translocation of t (18; 22) (q21.1; q12) whereas wife had a normal karyotype of 46, XX. Further spectral karyotyping was performed to rule out the involvement of any other chromosomal aberrations present in the genome. Additional whole chromosome paint FISH (Fluorescence in situ hybridization) with paint probes 18 and 22 confirmed the translocation.Conclusion: To our knowledge, this is the first report of a novel (18; 22) translocation with unique breakpoints and their association with RM. The reciprocal translocations provide a good opportunity for the identification of disease associated genes. However, in recurrent miscarriages, most of them do not disrupt any gene at the breakpoint but can lead to unbalanced gametes and hence poor reproductive outcome like RM or birth of a child with malformations and intellectual disability. The translocation breakpoints might be risk factors for RM. Moreover, the impact of the balanced translocations in association with RM is discussed in this report.