Pallister-Killian Syndrome: A Case Study

This case study focuses on a 27-year-old pregnant woman whose fetus was diagnosed with Pallister-Killian Syndrome (PKS), a rare genetic disorder caused by extra copies of chromosome 12p. The fetus showed multiple congenital anomalies, including congenital diaphragmatic hernia and severe growth restriction, and died shortly after birth. PKS is characterized by a mosaic distribution of isochromosome 12p, resulting in a wide range of symptoms such as intellectual disability and distinctive facial features. The study emphasizes the complexity of managing PKS, the importance of multidisciplinary care, and the challenges in prenatal detection due to phenotypic variability. Effective management involves coordinated care and genetic counseling, with diagnosis being more successful using amniotic fluid or skin fibroblasts.