Pitt-Hopkins syndrome (PTHS)- A case report from Pakistan
Document Type
Article
Department
Medical College Pakistan; Paediatrics and Child Health; Pathology and Laboratory Medicine
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.
Publication (Name of Journal)
Journal of the Pakistan Medical Association
DOI
10.47391/JPMA.30215
Recommended Citation
Nasir, A.,
Ahmed, Z. A.,
Hasan, Z.,
Afroze, B.,
Ilyas, S.
(2026). Pitt-Hopkins syndrome (PTHS)- A case report from Pakistan. Journal of the Pakistan Medical Association, 76(7), 1163-1165.
Available at:
https://ecommons.aku.edu/pakistan_fhs_mc_pathol_microbiol/1778