Recognizable clinical features of 1p36 deletion syndrome: Insights from a single-center cohort

Abstract

Objective: 1p36 deletion syndrome is one of the most common contiguous gene deletion syndromes and is primarily characterized by a typical facial gestalt, as well as neurological problems and multisystemic involvement. This study presents the clinical findings of 17 patients with 1p36 deletion syndrome followed at a single center. Methods: Data from patients diagnosed with 1p36 deletion syndrome between 2010 and 2026 were retrospectively reviewed. Demographic characteristics, growth parameters, dysmorphic features, and neurological, cardiac, endocrine, visual, and auditory findings were analyzed, and the diagnostic methods used were evaluated. Results: A total of 17 patients (13 females and 4 males) were included in the study. Four patients were diagnosed using microarray analysis, and 13 using fluorescence in situ hybridization (FISH). Neurodevelopmental delay was observed in all patients. Typical facial gestalt was observed in the patients, with the most common dysmorphic facial features being straight eyebrows, deep-set eyes, and ear abnormalities. Central nervous system malformations were common, and epilepsy was observed in 70% of patients. Cardiac findings, ocular problems, hearing impairments, and hypothyroidism were also frequently identified. Three patients died, all due to respiratory failure. Conclusion: 1p36 deletion syndrome is a clinically recognizable condition, and early diagnosis and referral for appropriate management are important for improving prognosis. Although phenotypes associated with variable deletion sizes and genes located within critical regions have been reported, a multisystem approach is required in this syndrome due to its variable clinical presentation.