Cytogenetic Evaluation and Clinical Correlation: A Retrospective Analysis of East Indian Patients with Diverse Amenorrhea Profiles

The findings emphasize the importance of karyotyping in diagnosis, highlighting its role in early detection and management of female infertility. Karyo-typing has a resolution limit of 4-5 Mb, which disables identification of submicroscopic chromosomal abnormalities. In contrast, chromosomal microarray (CMA) analysis can examine the entire genome at higher resolutions, allowing for the identification of genetic abnormalities that may not be detected by karyotyping. While CMA was excluded from this investigation, it could serve as a valuable technique for future research aimed at identifying submicroscopic chromosomal abnormalities in cytogenetically normal women with amenorrhea.