Retrospective study on the incidences of Williams-Beuren Microdeletion Syndrome

Williams-Beuren Microdeletion Syndrome

Authors

  • Pankaj Gadhia Molecular Cytogenetic Laboratory, S. N. Gene Laboratory Private Limited, President Plaza A, Ring Road, Surat, Gujarat, India https://orcid.org/0000-0002-6314-2116
  • Salil Vaniawala Molecular Cytogenetic Laboratory, S. N. Gene Laboratory Private Limited, President Plaza A, Ring Road, Surat, Gujarat, India

DOI:

https://doi.org/10.64171/JAMS.2025.5.4.1-3

Keywords:

Retrospective, Williams Beuren syndrome, Microdeletion, FISH technique

Abstract

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.

References

Stromme P, Bjomstrand M, Ramstud K. Prevalence estimation of Williams syndrome. J. Child Neurol. 2002;17:269-271.

Beckmann JS, Estivill X, Automarkis SE. Copy number variants and genetic traits closer to the resolution of phenotype to genotypic variabilities. Nature Rev. Genet. 2007;8:639-647.

Gadhia PK, Vaniawala SN. Williams-Beuren syndrome: A rare case from Western India. J. Helth. Sci. Res. 2016;1(1):1-3.

Del Campo M, Autonell A, Flores R, Campuzane V, Preez-lurado A. Williams Syndrome: Its clinical aspects and molecular bases. Rev. Neurol. 2006;7:569-575.

Pober BA. Williams-Beuren syndrome. The New England J. Med. 2010;362(3):239-252.

Bouzid F, Hammon A, Akallakh H, Daffer K, Tajir M, Aboussair N. Williams-Beuren syndromes retrospective study of a series of 11 cases from the Mohammed VI University Hospital in Mamakech. Pan African Med. J. 2023;46:94.

Lumaka A, Lukoo R, Mubungn G, Lumbala P, Mbayoba A et al., Williams-Beuren syndrome: pittfalls for diagnosis in limited resources setting. Clin. Case Repo. 2016;4(3):294-297.

Tekendo-Ngongung C, Dahoun S, Nguefack S, Sloan-Dena F, Weknan A. Challenges in clinical diagnosis of WBS in sub Sahara African. Case report from Cameroon. Mol. Syndromol. 2014;5(6):287-292.

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Published

2025-10-06

How to Cite

[1]
P. Gadhia and S. Vaniawala, “Retrospective study on the incidences of Williams-Beuren Microdeletion Syndrome: Williams-Beuren Microdeletion Syndrome”, J. A. Med. Sci, vol. 5, no. 4, pp. 01–03, Oct. 2025.

Issue

Vol. 5 No. 4 (2025)

Section

Articles

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Copyright (c) 2025 Pankaj Gadhia, Salil Vaniawala

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This work is licensed under a Creative Commons Attribution 4.0 International License.