Background and Objectives: Aneuploidy is one of the major concerns to cause genetic anomalies. This condition is mostly related to addition and/or deletion with respect to set(s) of chromosomes. Here, we report an analysis of 5740 referral cases during three consecutive years (2015 – 2018) from our Diagnostic Research Center, Ahmedabad for aneuploidy pattern. Methodologies: The patients were asked to fill the necessary forms and their blood (5ml) was drawn for chromosomal studies using the Karyotyping following International System for Human Cytogenetic Nomenclature (ISCN) manual. Results: The data revealed the numerical aberrations for only aneuploidy detected was (3.7%; 211/5740). In this report, constitutional (c) autosomal aneuploidy was 75% (158/211). The total mosaic cases were nine (9/211) comprising constitutive (2) and acquired (7) aneuploidy cases. In autosomal aneuploidy, cT21 was higher (96%; 152/158) than others (4%; 6/158) comparatively. Among cT21 (152), males (76%; 115/152) were more affected than females (24%; 37/152). These statistical data also revealed that acquired chromosomal aneuploidy (leukemia) possessed (25%; 53/211); with more mosaic cases (7/211). Conclusion: Couples with such conditions are eligible for genetic tests and counseling as well as new strategies are urgently to be undertaken by governmental organizations (GOs) and non-governmental organizations (NGOs) for affected families with better personalized and informed decision making. The significance of these data is thus discussed in relation to genetic disorders caused by constitutional and acquired aneuploidy of leukemic blood in this report.

Introduction: Male infertility (MI) in about 50% of couples is constituted due to genetic, hormonal, and epigenetic factors. Almost 10% of it is contributed to genetic anomalies. Objectives: This study was undertaken in 787 males with infertility and the impacts of the type of translocations in these cases were studied in relation to MI. Materials and Methods: Five milliliters (ml) of blood were drawn from referred cases suspected with MI and were used for cytogenetic analysis with Giemsa stain following International System for Human Cytogenetic Nomenclature. Results: Of 6142 referral cases, 787 were detected with MI (787/6142; 12.8%). Forty-four translocations (44/787; 5.6%) were detected in 787 infertile men. Other chromosomal abnormalities were 21% (167/787) in them. Among all translocations, an autosome-autosomal translocations were higher in frequency (24/787; 3.1%) than Robertsonian (15/787; 1.9%) and autogonosomal translocations (5/787; 0.6%). Few translocations seemed to be rare as our knowledge is concerned. Maharashtra had high frequency of translocations followed by Delhi union territory (UT) and Gujarat (07 each) and other states. Most of the translocations were related to infertility. Seven males had primary infertility (7/44) and six with secondary type (6/44) in this study. Conclusions: These reciprocal translocations are important in causation of infertility affecting testicular spermatogenesis. Few are rare in our study. Such cases are clinically suggested for counseling before adopting assisted reproductive technologies.