Chromosome 13 mosaicism in pediatrics: a rare diagnosis and its clinical manifestations: case report

Abstract

Introduction: Mosaic Patau syndrome is a rare genetic condition characterized by multiple congenital anomalies, such as cleft lip, microphthalmia, and heart defects. The etiology usually involves nondisjunction of chromosome 13 during meiosis, with a higher prevalence in older mothers. Life expectancy is low. Case report: A male patient, born by cesarean section at term (38 weeks), presented with a cleft lip and prominent cleft palate since birth, with severe oropharyngeal dysphagia associated with cardiac, respiratory, and renal manifestations. Orotracheal intubation was performed to preserve the airway until the diagnosis was made. The diagnosis was confirmed as mosaic Patau syndrome. Surprisingly, the patient had a favorable evolution, exceeding the life expectancy for cases with the syndrome, achieving more than one year of survival. Discussion: This report highlights a rare case of mosaic Patau syndrome, evidencing how early multidisciplinary management can positively influence clinical evolution. Despite the high mortality rates associated with the syndrome, the patient survived beyond life expectancy. Genetic and environmental factors, such as advanced maternal age and exposure to teratogens, may have contributed to the case, although no definitive conclusions have been drawn. Conclusion: This case highlights the importance of early recognition of clinical manifestations associated with genetic syndromes, especially for pediatricians, who should be alert to signs at birth. The positive outcome, despite the severe associated complications, highlights this rare case of prolonged survival and atypical clinical course for Patau Syndrome.

Key words: Patau Syndrome; mosaicism; rare genetic disorders; congenital abnormalities.