Pitt–Hopkins syndrome (PTHS)– a case report from Pakistan Authors Asghar Nasir Department of Pathology and Laboratory Medicine, Aga Khan University, Karachi, Pakistan Bushra Afroze Department of Paediatrics and Child Health, Aga Khan University, Karachi, Pakistan Saad Ilyas 4th Year MBBS Student, Aga Khan University, Karachi, Pakistan Zeeshan Ansar Department of Pathology and Laboratory Medicine, Aga Khan University, Karachi, Pakistan Zahra Hasan Department of Pathology and Laboratory Medicine, Aga Khan University, Karachi, Pakistan DOI: https://doi.org/10.47391/JPMA.30215 Keywords: Pitt–Hopkins syndrome, TCF4 gene, Chromosomal Microarray Analysis, Pakistan case report Abstract Pitt–Hopkins syndrome (PTHS) is a rare genetic neurodevelopment disorder where affected individuals exhibit symptoms such as severe developmental delays and intellectual disability. To the best of our knowledge, this report presents the first known case from Pakistan where Chromosomal Microarray Analysis (CMA) was employed to diagnose PTHS. The CMA revealed a deletion in the Transcription Factor 4 (TCF4) gene, confirming the diagnosis. This case underscores the clinical features, diagnostic process, and the significance of CMA in diagnosing rare genetic disorders such as PTHS, particularly in resource-limited settings. Keywords: Pitt–Hopkins syndrome, TCF4 gene, Chromosomal Microarray Analysis, Pakistan case report. Downloads Full Text Article Published 2026-06-25 How to Cite Nasir, A., Afroze, B., Ilyas, S., Ansar, Z., & Hasan, Z. (2026). Pitt–Hopkins syndrome (PTHS)– a case report from Pakistan. Journal of the Pakistan Medical Association, 76(07), 1163–1165. https://doi.org/10.47391/JPMA.30215 More Citation Formats ACM ACS APA ABNT Chicago Harvard IEEE MLA Turabian Vancouver Download Citation Endnote/Zotero/Mendeley (RIS) BibTeX Issue Vol. 76 No. 07 (2026): JULY Section CASE REPORT License Copyright (c) 2026 Journal of the Pakistan Medical Association This work is licensed under a Creative Commons Attribution 4.0 International License.