https://dzarc.com/medical <p><strong>Journal of Advance Medical Sciences</strong> is a peer-reviewed, refereed, and open access journal that focuses on critical and creative research and provides an open access research journal platform for scholars and researchers to exchange their research work results among professionals throughout the world. This journal publishes research articles in all fields of Medical science but is not limited to.</p> Dzarc Publications en-US Journal of Advance Medical Sciences 2583-2425 https://dzarc.com/medical/article/view/722 <p><strong>Objectives:</strong> To study the prevalence of Williams–Beuren syndrome (WBS) microdeletion among patients referred for genetic testing from January 2021 to August 2025.</p> <p><strong>Methods:</strong> Peripheral blood samples were processed and Interphase FISH was performed using a commercially available probe mapping to the elastin gene/7q11.23 regions. A total of 30 interphase nuclei were scored per sample; microdeletion was reported when the single orange signal with two green signals observed.</p> <p><strong>Results:</strong> A total of 26 samples were referred during the study period. Sex distribution was 13 (50%) males and 13 (50%) females. Among male referrals, 9 of 13 (69%) were confirmed to have the 7q11.23 microdeletions by FISH. Among female only 4 of 13 were positive.</p> <p><strong>Conclusion: </strong>In this retrospective study, a high proportion of male referrals were confirmed (9/13, 69%) positive, while the confirmation rate among females was 4/13, (31%). These results highlight that targeted FISH remains a useful diagnostic tool for suspected WBS.</p> Pankaj Gadhia Salil Vaniawala Copyright (c) 2025 Pankaj Gadhia, Salil Vaniawala https://creativecommons.org/licenses/by/4.0 2025-10-06 2025-10-06 5 4 01 03 10.64171/JAMS.2025.5.4.1-3