Retrospective study on the incidences of Williams-Beuren Microdeletion Syndrome

Pankaj Gadhia, Salil Vaniawala — Mon, 06 Oct 2025 00:00:00 +0000

Objectives: To study the prevalence of Williams–Beuren syndrome (WBS) microdeletion among patients referred for genetic testing from January 2021 to August 2025.

Methods: 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.

Results: 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.

Conclusion: 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.

The estimation of early first permanent molars loss in Benghazi children and adolescent aged from 6-14 years

Thu, 09 Oct 2025 00:00:00 +0000

Aim: This study was conducted to evaluate the percentage of early first permanent molars loss in Benghazi Children and adolescents Aged From 6-14 Years.

Materials and Methods: A cross-sectional study was conducted involving 661 patients attending the Dental Clinical Center. The inclusion criteria include: communicative healthy patients, aged between 6 and 14 years, had at least one fully erupted first permanent molar and parental or guardian consent to participate in the study. In this study, the early extracted first permanent molar teeth in both the maxillary and mandibular arches on the right or left side were recorded. Data was presented with descriptive statistics and chi-square tests were applied using IBM SPSS Statistics software 20. The significance level was set at (P < 0.05).

Results: A total of 36 (8.30%) children and adolescents from the sample had early missing first permanent molars, most cases of loss about the age of ten with no significant difference between the two genders.

Conclusion: In our study, the percentage of early extraction of first permanent molars was slightly lower. The mandible arch had a higher percentage of loss than the maxilla and the right mandibular first permanent molars were the most teeth lost.

Journal of Advance Medical Sciences

Retrospective study on the incidences of Williams-Beuren Microdeletion Syndrome

The estimation of early first permanent molars loss in Benghazi children and adolescent aged from 6-14 years